(used for variant description)
(last modified June 4, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_148898.3 in the FOXP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007491.2, covering FOXP2 transcript NM_148898.3.
(upstream sequence)
. g.333701
cttgaacctttgtc c.-361
. . . . . . g.333761
acccctcacgttgcacaccaaagacataccctagtgattaaatgctgattttgtgtacga c.-301
. . . . . . g.333821
ttgtccacggacgccaaaacaatcacagagctgcttgatttgttttaattaccagcacaa c.-241
. . . . . . g.333881
aatgccatcagtctgggacgtgatcgggcagaggtgtactcacagtagtgtaaatactgc c.-181
. . . . . . g.333941
tgtaaatagttgtctgatggtggctttgacagtgagctagcttctgagttttcccttctt c.-121
. . . . . . g.334001
tttatactgttttctgtgctggcttttttgaatcttcctaatttttcatctctttaacaa c.-61
. . . . . | 02 g.345202
actcctatgaagttgaaaccgggaagtttgctctaacatttccagagaag | gtattaagtc c.-1
. . . . . . g.345262
ATGATGCAGGAATCTGCGACAGAGACAATAAGCAACAGTTCAATGAATCAAAATGGAATG c.60
M M Q E S A T E T I S N S S M N Q N G M p.20
. . . . . . g.345322
AGCACTCTAAGCAGCCAATTAGATGCTGGCAGCAGAGATGGAAGATCAAGTGGTGACACC c.120
S T L S S Q L D A G S R D G R S S G D T p.40
. . . . | 03 . g.453319
AGCTCTGAAGTAAGCACAGTAGAACTGCTGCATCTGCAACAACAGCAG | GCTCTCCAGGCA c.180
S S E V S T V E L L H L Q Q Q Q | A L Q A p.60
. . . . . . g.453379
GCAAGACAACTTCTTTTACAGCAGCAAACAAGTGGATTGAAATCTCCTAAGAGCAGTGAT c.240
A R Q L L L Q Q Q T S G L K S P K S S D p.80
. | 04 . . . . g.489539
AAACAGAGACCACTGCAG | GAATTGCTTCCAGAAACAAAATTATGTATCTGTGGCCACTCT c.300
K Q R P L Q | E L L P E T K L C I C G H S p.100
. . . | 05 . . . g.547257
TCTGGTGATGGGCATCCTCACAACACATTTGCA | GTGCCTGTGTCAGTGGCCATGATGACT c.360
S G D G H P H N T F A | V P V S V A M M T p.120
. . . . . . g.547317
CCCCAGGTGATCACCCCTCAGCAAATGCAGCAGATCCTTCAGCAACAAGTCCTGTCTCCT c.420
P Q V I T P Q Q M Q Q I L Q Q Q V L S P p.140
. . . . . | 06 . g.548504
CAGCAGCTACAAGCCCTTCTCCAACAACAGCAGGCTGTCATGCTGCAGCAG | CAACAACTA c.480
Q Q L Q A L L Q Q Q Q A V M L Q Q | Q Q L p.160
. . . . . . g.548564
CAAGAGTTTTACAAGAAACAGCAAGAGCAGTTACATCTTCAGCTTTTGCAGCAGCAGCAG c.540
Q E F Y K K Q Q E Q L H L Q L L Q Q Q Q p.180
. . . . . . g.548624
CAACAGCAGCAGCAGCAACAACAGCAGCAACAACAGCAGCAGCAACAACAACAACAACAG c.600
Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q p.200
. . . . . . g.548684
CAGCAACAACAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAACAGCATCCTGGAAAG c.660
Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q H P G K p.220
. | 07 . . . . . g.550266
CAAGCGAAAGAG | CAGCAGCAGCAGCAGCAGCAGCAACAGCAATTGGCAGCCCAGCAGCTT c.720
Q A K E | Q Q Q Q Q Q Q Q Q Q L A A Q Q L p.240
. . . . . . g.550326
GTCTTCCAGCAGCAGCTTCTCCAGATGCAACAACTCCAGCAGCAGCAGCATCTGCTCAGC c.780
V F Q Q Q L L Q M Q Q L Q Q Q Q H L L S p.260
. . . . . . g.550386
CTTCAGCGTCAGGGACTCATCTCCATTCCACCTGGCCAGGCAGCACTTCCTGTCCAATCG c.840
L Q R Q G L I S I P P G Q A A L P V Q S p.280
. | 08 . . . . . g.561150
CTGCCTCAAG | CTGGCTTAAGTCCTGCTGAGATTCAGCAGTTATGGAAAGAAGTGACTGGA c.900
L P Q A | G L S P A E I Q Q L W K E V T G p.300
. . . . . . g.561210
GTTCACAGTATGGAAGACAATGGCATTAAACATGGAGGGCTAGACCTCACTACTAACAAT c.960
V H S M E D N G I K H G G L D L T T N N p.320
. . . . . . g.561270
TCCTCCTCGACTACCTCCTCCAACACTTCCAAAGCATCACCACCAATAACTCATCATTCC c.1020
S S S T T S S N T S K A S P P I T H H S p.340
. . . . | 09 . . g.563391
ATAGTGAATGGACAGTCTTCAGTTCTAAGTGCAAGACGAGACAG | CTCGTCACATGAGGAG c.1080
I V N G Q S S V L S A R R D S | S S H E E p.360
. . . . . . g.563451
ACTGGGGCCTCTCACACTCTCTATGGCCATGGAGTTTGCAAATGGCCAGGCTGTGAAAGC c.1140
T G A S H T L Y G H G V C K W P G C E S p.380
. . | 10 . . . g.570924
ATTTGTGAAGATTTTGGACAGTTTTTAAA | GCACCTTAACAATGAACACGCATTGGATGAC c.1200
I C E D F G Q F L K | H L N N E H A L D D p.400
. . . . . | 11. g.572619
CGAAGCACTGCTCAGTGTCGAGTGCAAATGCAGGTGGTGCAACAGTTAGAAATACAG | CTT c.1260
R S T A Q C R V Q M Q V V Q Q L E I Q | L p.420
. . . . . . g.572679
TCTAAAGAACGCGAACGTCTTCAAGCAATGATGACCCACTTGCACATGCGACCCTCAGAG c.1320
S K E R E R L Q A M M T H L H M R P S E p.440
. . | 12 . . . . g.576795
CCCAAACCATCTCCCAAACCT | CTAAATCTGGTGTCTAGTGTCACCATGTCGAAGAATATG c.1380
P K P S P K P | L N L V S S V T M S K N M p.460
. . . . . . g.576855
TTGGAGACATCCCCACAGAGCTTACCTCAAACCCCTACCACACCAACGGCCCCAGTCACC c.1440
L E T S P Q S L P Q T P T T P T A P V T p.480
. . . . . . g.576915
CCGATTACCCAGGGACCCTCAGTAATCACCCCAGCCAGTGTGCCCAATGTGGGAGCCATA c.1500
P I T Q G P S V I T P A S V P N V G A I p.500
. . . . | 13 . . g.578063
CGAAGGCGACATTCAGACAAATACAACATTCCCATGTCATCAG | AAATTGCCCCAAACTAT c.1560
R R R H S D K Y N I P M S S E | I A P N Y p.520
. . . . . . g.578123
GAATTTTATAAAAATGCAGATGTCAGACCTCCATTTACTTATGCAACTCTCATAAGGCAG c.1620
E F Y K N A D V R P P F T Y A T L I R Q p.540
| 14 . . . . . . g.578322
| GCTATCATGGAGTCATCTGACAGGCAGTTAACACTTAATGAAATTTACAGCTGGTTTACA c.1680
| A I M E S S D R Q L T L N E I Y S W F T p.560
. . . . | 15 . . g.580773
CGGACATTTGCTTACTTCAGGCGTAATGCAGCAACTTGGAAG | AATGCAGTACGTCATAAT c.1740
R T F A Y F R R N A A T W K | N A V R H N p.580
. . . . . . g.580833
CTTAGCCTGCACAAGTGTTTTGTTCGAGTAGAAAATGTTAAAGGAGCAGTATGGACTGTG c.1800
L S L H K C F V R V E N V K G A V W T V p.600
. . . . | 16 . . g.582156
GATGAAGTAGAATACCAGAAGCGAAGGTCACAAAAGATAACAGG | AAGTCCAACCTTAGTA c.1860
D E V E Y Q K R R S Q K I T G | S P T L V p.620
. . . . . | 17 . g.582969
AAAAATATACCTACCAGTTTAGGCTATGGAGCAGCTCTTAATGCCAGTTTGCAG | GCTGCC c.1920
K N I P T S L G Y G A A L N A S L Q | A A p.640
. . . . . . g.583029
TTGGCAGAGAGCAGTTTACCTTTGCTAAGTAATCCTGGACTGATAAATAATGCATCCAGT c.1980
L A E S S L P L L S N P G L I N N A S S p.660
. . . . . . g.583089
GGCCTACTGCAGGCCGTCCACGAAGACCTCAATGGTTCTCTGGATCACATTGACAGCAAT c.2040
G L L Q A V H E D L N G S L D H I D S N p.680
. . . | 18 . . g.608494
GGAAACAGTAGTCCGGGCTGCTCACCTCAGCCGCACAT | ACATTCAATCCACGTCAAGGAA c.2100
G N S S P G C S P Q P H I | H S I H V K E p.700
. . . . . . g.608554
GAGCCAGTGATTGCAGAGGATGAAGACTGCCCAATGTCCTTAGTGACAACAGCTAATCAC c.2160
E P V I A E D E D C P M S L V T T A N H p.720
. . . . . . g.608614
AGTCCAGAATTAGAAGACGACAGAGAGATTGAAGAAGAGCCTTTATCTGAAGATCTGGAA c.2220
S P E L E D D R E I E E E P L S E D L E p.740
g.608617
TGA c.2223
X p.740
. . . . . . g.608677
gaactgacttgtgaaacctcagcgtgaagggacatatcactgaccttcataaccactcca c.*60
. . . . . . g.608737
caaccatgaatatttgacaaatttttactgtgactatttattaagcatggataaaggaga c.*120
. . . . . . g.608797
cagccctaaaggaacttactaagccagccctttgggattcagtaccaacaggcaaattgc c.*180
. . . . . . g.608857
ttgttttcttcttcttcttcttctttttttttttttttttagaaaaaaagacaaaaactg c.*240
. . . . . . g.608917
attttcttgaaaaaaaaaaatgaactgttctttctataatggctttgcccatttaaaaaa c.*300
. . . . . . g.608977
tgtggctcttaagggttcatgaaatgactgaatatgaggatacatgtcctgtagaaagca c.*360
. . . . . . g.609037
aatgcgcctcatatactgccaaaaatagtgttagtttcattaatgtgaattttccagcat c.*420
. . . . . . g.609097
tcagtagttgtaatgttagaaacaattgctggtcaagttcaacttgttgctattgttttt c.*480
. . . . . . g.609157
aatttgcacaggagtagtatcagaaattagtgtcactgcttgtatctagctgaattttaa c.*540
. . . . . . g.609217
acaacagaacattagttttttatgttggtgccaccaactgtaaatgacataagttagtta c.*600
. . . . . . g.609277
ttacaaaacacagtaattagactgttgcaaccatctaaaaccttaggcttccagtctgtg c.*660
. . . . . . g.609337
ctgttagtgttaagatgtaaagtgcaatcctaagctaacattatctgtgcaagcaccata c.*720
. . . . . . g.609397
gaaacatttgcatatctgcatagatcttacaactgtactctttacctccttgtgataaag c.*780
. . . . . . g.609457
ctttgtctacctgcaaacacagtcaaaggctacagctgcaaaccaaagccaactctaacc c.*840
. . . . . . g.609517
atggccaagagctcaaggacagaagcagccacatgctttggtcagccttctgtaacttca c.*900
. . . . . . g.609577
attagtacaaaggaaccttttccatgaactacctgctgttttctgatgacctctgggatc c.*960
. . . . . . g.609637
ttttcatttagccctaaacaaagaaacaaatatgacaaaaaccacaactaaaaaatgtta c.*1020
. . . . . . g.609697
attcagtcacagagtaatcttctgaggccaaaagtccatctaaatgcaatgaagatttgc c.*1080
. . . . . . g.609757
tttcattaaagacagaggtgaggacaaaatccgcagtggaagttatgatatgctagaaag c.*1140
. . . . . . g.609817
caacaaatgtggatcactgaccaaaacgattatgtacttgatgcaaatgcagattgcata c.*1200
. . . . . . g.609877
ttgttatatatatagtactttgtgtttttgttttccctcattcagtcagttattttcagt c.*1260
. . . . . . g.609937
ggtgaatacatgttgttagaagatgtcttgtatggtcttaatctttgttgtgtactattt c.*1320
. . . . . . g.609997
ttttatagtcttaagttataatgaaaaaacaaaaagtaggaaccaaacataaaaggtcta c.*1380
. . . . . . g.610057
gtaaagccaaaaattaatttcatattgattttaaagtgatctagctgagtttttacactg c.*1440
. . . . . . g.610117
aaagcaaagattatagcaattgtagtccatggtatttattttcagtcaaaccaaagttac c.*1500
. . . . . . g.610177
atataattctgcctctgcttatacgggatattaacactaacaatacactcccttcaaaga c.*1560
. . . . . . g.610237
cttgcacaggccaaattgttggaatgctggttttcttgacaattccaaaccccaaaacta c.*1620
. . . . . . g.610297
tgataatgagttatgatgtagttgaaaatagcatagtcagatgtttgcttaaaacctaga c.*1680
. . . . . . g.610357
aacttaacatgttgcttttcatgtgctgtgccaagtcttgataatactttttcccccaac c.*1740
. . . . . . g.610417
caagggacctcataacctgattatggttattgctttacaaacagttttgacagaaggtgg c.*1800
. . . . . . g.610477
ctgctagagcttaacatacgttcccgttccatgtgatggaaccggttcttgcaaactaag c.*1860
. . . . . . g.610537
ctcatcattgattctttgctgaagtcagcaaatagagttagagagatacccagtcatcta c.*1920
. . . . . . g.610597
tcacaccaaataaaaggacataacggctttcaaaagggttttcccacttacccaaaaggc c.*1980
. . . . . . g.610657
tttctgaaagcttctacctctgcaaaaaaaaaaaaagaaaaaaaaaaaaagaaaaacatt c.*2040
. . . . . . g.610717
agaacaattatggcagattgcatgaaacgtgagaacgtcacagtaactgctacttttcat c.*2100
. . . . . . g.610777
tatgtttgtctttgggtcatgatcaacgaaccggaagtttacaatatggtattaaaagaa c.*2160
. . . . . . g.610837
agatgggtatggtgaaagatggttttcagtcatctaggatcctactgtaaggattatctg c.*2220
. . . . . . g.610897
aaaggaaaaatgggtctttcaggtgcatgttcaaaaggctttgagggactggaagtaact c.*2280
. . . . . . g.610957
gcgagagttgtaccatcagaagggtggcctaagactacaatgctaaagtatgcatacctc c.*2340
. . . . . . g.611017
agttagaaaacttttgaaaggaagtctcagccacagaatgcatatacctgtagagttttg c.*2400
. . . . . . g.611077
catgggttttatatgaatacaattttaaaaaatagctgcttgcacattataccagaaaaa c.*2460
. . . . . . g.611137
cctccaaaactgcaattgctttgaaaatagattttaggttttttggagtttcctgaaatg c.*2520
. . . . . . g.611197
cttggtctgtattttgataattgtgcatattatgtaaaaatgttggtggacccataaatg c.*2580
. . . . . . g.611257
accagactttttctaagaaaaatgttgctttaatgcatttcatgaatttttactcttata c.*2640
. . . . . . g.611317
tcattgcttgctagtaatagcaaatctgcttttctgcatctgctttgcgtagctattgta c.*2700
. . . . . . g.611377
aggctttgaactaatgtatgtatttattgcttgaacttctgtgcataccttataaagcat c.*2760
. . . . . . g.611437
aatgtctgacaatttaaatggctcatgtattcttgcttctatcataagctgattatgggg c.*2820
. . . . . . g.611497
actatgatcttttgtatacagcaaattttaaactgtagcacaaacatctgtttatgtatt c.*2880
. . . . . . g.611557
ggtggaatatacctgttttatttatcttttttgaggtaaactaatttttgatacttttca c.*2940
. . . . . . g.611617
ttactgtgtactatgttcatactttgaattctctgacgttagaagtcatggttgagaatt c.*3000
. . . . . . g.611677
gtaacagctgttattcgttctgtattcatggctttcactgctgaataaaataaaggacca c.*3060
. . . . . . g.611737
aacctaggatttgaaagaaaactgtctacctctaacaccagggagttatcagattttatt c.*3120
. . . . . . g.611797
ttacatagttttagtctacaaagacacaattgcttaaacctagtgggcttaaggcttata c.*3180
. . . . . . g.611857
ttctatgtggttggattcgtggcacagttgtactatttgaaaatcaattaaaattttatg c.*3240
. . . . . . g.611917
tgaatgttacaagtatttggtagaattaccactaactgggttttctttagataactcaga c.*3300
. . . . . . g.611977
tatggagaaaatgtcatcagcattctgtgtctacagctgcttaacttcataagaatgcat c.*3360
. . . . . . g.612037
ttctttgtgattagggaatcgaagaatagtcagctaggaatagagctacagaagtacact c.*3420
. . . . . . g.612097
tacataaaccatcctggactttaatgtccctgggcagattcagtcgcaaaatccaatatg c.*3480
. . . . . . g.612157
atattttgtaaagttttcaagttggacatttacatttttgagaattttgagacttcatct c.*3540
. . . . . . g.612217
tacacatgccagtattaacacacatttggacaatagctttattaagtctataaagctatt c.*3600
. . . . . . g.612277
gaaaggaacatggcttacccttgttatttcactagttcaggttgcaacgaaaggtttttt c.*3660
. . . . . . g.612337
tgtccatgaacacttggcatatcttacttagcaaaaaagaaggatgtacattttactata c.*3720
. . . . . . g.612397
gaattaatgtatgaacagtgtgtcactgctgttggatgtaaaaatgtatatgaaaccatt c.*3780
. . . . . . g.612457
tcattcacttgattacatttctgaagtataaataaaaaaatctaattctttttgacccat c.*3840
g.612463
ttataa c.*3846
(downstream sequence)
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