(used for variant description)
(last modified March 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_024915.3 in the GRHL2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011971.1, covering GRHL2 transcript NM_024915.3.
(upstream sequence)
. . . g.5030
agaaagttacctgtggccgcccaagtccgc c.-301
. . . . . . g.5090
cactttctgctctgtgtctgcccattgccacgatccaggaggactccgcgccgcccggcc c.-241
. . . . . . g.5150
gcctccgagctcgggccccatgtgaggggcccccccttatcccacctttccggctaggtg c.-181
. . . . . . g.5210
agggcgcgagcgggcgagcgagcgagagtggtgaggggggacggaaaagcagaattacct c.-121
. . . . . . g.5270
gtagctcttgttctgccatctcgggcgctctcacacaccttcacctgcacagacttgaaa c.-61
. . . . . . g.5330
gtccagtttcaccagaggctgaggctccaggaaaagcggagcaagttcattggatcaaac c.-1
. . | 02 . . . . g.55841
ATGTCACAAGAGTCGGACAA | TAATAAAAGACTAGTGGCCTTAGTGCCCATGCCCAGTGAC c.60
M S Q E S D N | N K R L V A L V P M P S D p.20
. . . . . . g.55901
CCTCCATTCAATACCCGAAGAGCCTACACCAGTGAGGATGAAGCCTGGAAGTCATACTTG c.120
P P F N T R R A Y T S E D E A W K S Y L p.40
. . . . . . g.55961
GAGAATCCCCTGACAGCAGCCACCAAGGCCATGATGAGCATTAATGGTGATGAGGACAGT c.180
E N P L T A A T K A M M S I N G D E D S p.60
. . . | 03 . . . g.65299
GCTGCTGCCCTCGGCCTGCTCTATGACTACTACAAG | GTTCCTCGAGACAAGAGGCTGCTG c.240
A A A L G L L Y D Y Y K | V P R D K R L L p.80
. . . . | 04 . . g.70995
TCTGTAAGCAAAGCAAGTGACAGCCAAGAAGACCAGGAGAAAAG | AAACTGCCTTGGCACC c.300
S V S K A S D S Q E D Q E K R | N C L G T p.100
. . . . . . g.71055
AGTGAAGCCCAGAGTAATTTGAGTGGAGGAGAAAACCGAGTGCAAGTCCTAAAGACTGTT c.360
S E A Q S N L S G G E N R V Q V L K T V p.120
. . . . . . g.71115
CCAGTGAACCTTTCCCTAAATCAAGATCACCTGGAGAATTCCAAGCGGGAACAGTACAGC c.420
P V N L S L N Q D H L E N S K R E Q Y S p.140
. . . . . . g.71175
ATCAGCTTCCCCGAGAGCTCTGCCATCATCCCGGTGTCGGGAATCACGGTGGTGAAAGCT c.480
I S F P E S S A I I P V S G I T V V K A p.160
. . . . . . g.71235
GAAGATTTCACACCAGTTTTCATGGCCCCACCTGTGCACTATCCCCGGGGAGATGGGGAA c.540
E D F T P V F M A P P V H Y P R G D G E p.180
. . . . . . g.71295
GAGCAACGAGTGGTTATCTTTGAACAGACTCAGTATGACGTGCCCTCGCTGGCCACCCAC c.600
E Q R V V I F E Q T Q Y D V P S L A T H p.200
. . . . . . g.71355
AGCGCCTATCTCAAAGACGACCAGCGCAGCACTCCGGACAGCACATACAGCGAGAGCTTC c.660
S A Y L K D D Q R S T P D S T Y S E S F p.220
. | 05 . . . . g.82941
AAGGACGCAGCCACAGAG | AAATTTCGGAGTGCTTCAGTTGGGGCTGAGGAGTACATGTAT c.720
K D A A T E | K F R S A S V G A E E Y M Y p.240
. | 06 . . . . . g.86274
GATCAGACATCAAG | TGGCACATTTCAGTACACCCTGGAAGCCACCAAATCTCTCCGTCAG c.780
D Q T S S | G T F Q Y T L E A T K S L R Q p.260
. . . . . . g.86334
AAGCAGGGGGAGGGCCCCATGACCTACCTCAACAAAGGACAGTTCTATGCCATAACACTC c.840
K Q G E G P M T Y L N K G Q F Y A I T L p.280
. . . . . | 07 . g.89977
AGCGAGACCGGAGACAACAAATGCTTCCGACACCCCATCAGCAAAGTCAGG | AGTGTGGTG c.900
S E T G D N K C F R H P I S K V R | S V V p.300
. . . . . . g.90037
ATGGTGGTCTTCAGTGAAGACAAAAACAGAGATGAACAGCTCAAATACTGGAAATACTGG c.960
M V V F S E D K N R D E Q L K Y W K Y W p.320
. . . . | 08 . . g.111634
CACTCTCGGCAGCATACGGCGAAGCAGAGGGTCCTTGACATTG | CCGATTACAAGGAGAGC c.1020
H S R Q H T A K Q R V L D I A | D Y K E S p.340
. . . . . . g.111694
TTTAATACGATTGGAAACATTGAAGAGATTGCATATAATGCTGTTTCCTTTACCTGGGAC c.1080
F N T I G N I E E I A Y N A V S F T W D p.360
. | 09 . . . . g.132141
GTGAATGAAGAGGCGAAG | ATTTTCATCACCGTGAATTGCTTGAGCACAGATTTCTCCTCC c.1140
V N E E A K | I F I T V N C L S T D F S S p.380
. . . . . . g.132201
CAAAAAGGGGTGAAAGGACTTCCTTTGATGATTCAGATTGACACATACAGTTATAACAAT c.1200
Q K G V K G L P L M I Q I D T Y S Y N N p.400
. . . . . | 10. g.144200
CGTAGCAATAAACCCATTCATAGAGCTTATTGCCAGATCAAGGTCTTCTGTGACAAA | GGA c.1260
R S N K P I H R A Y C Q I K V F C D K | G p.420
. . . . . . g.144260
GCAGAAAGAAAAATCCGAGATGAAGAGCGGAAGCAGAACAGGAAGAAAGGGAAAGGCCAG c.1320
A E R K I R D E E R K Q N R K K G K G Q p.440
. . | 11 . . . . g.144821
GCCTCCCAAACTCAATGCAACAGCT | CCTCTGATGGGAAGTTGGCTGCCATACCTTTACAG c.1380
A S Q T Q C N S S | S D G K L A A I P L Q p.460
. . . . . . g.144881
AAGAAGAGTGACATCACCTACTTCAAAACCATGCCTGATCTCCACTCACAGCCAGTTCTC c.1440
K K S D I T Y F K T M P D L H S Q P V L p.480
. . . . | 12 . . g.149472
TTCATACCTGATGTTCACTTTGCAAACCTGCAGAGGACCGGACAG | GTGTATTACAACACG c.1500
F I P D V H F A N L Q R T G Q | V Y Y N T p.500
. | 13. . . . . g.156734
GATGATGAACGAGAAGG | TGGCAGTGTCCTTGTTAAACGGATGTTCCGGCCCATGGAAGAG c.1560
D D E R E G | G S V L V K R M F R P M E E p.520
. . . . . | 14 . g.161982
GAGTTTGGTCCAGTGCCTTCAAAGCAGATGAAAGAAGAAGGGACAAAGCGAG | TGCTCTTG c.1620
E F G P V P S K Q M K E E G T K R V | L L p.540
. . . . . . g.162042
TACGTGAGGAAGGAGACTGACGATGTGTTCGATGCATTGATGTTGAAGTCTCCCACAGTG c.1680
Y V R K E T D D V F D A L M L K S P T V p.560
. | 15 . . . . g.177056
AAGGGCCTGATGGAAGCG | ATATCTGAGAAATATGGGCTGCCCGTGGAGAAGATAGCAAAG c.1740
K G L M E A | I S E K Y G L P V E K I A K p.580
. . | 16 . . . . g.179186
CTTTACAAGAAAAGCAAAAAAGG | CATCTTGGTGAACATGGATGACAACATCATCGAGCAC c.1800
L Y K K S K K G | I L V N M D D N I I E H p.600
. . . . . . g.179246
TACTCGAACGAGGACACCTTCATCCTCAACATGGAGAGCATGGTGGAGGGCTTCAAGGTC c.1860
Y S N E D T F I L N M E S M V E G F K V p.620
. g.179264
ACGCTCATGGAAATCTAG c.1878
T L M E I X p.625
. . . . . . g.179324
ccctgggtttggcatccgctttggctggagctctcagtgcgttcctccctgagagagaca c.*60
. . . . . . g.179384
gaagccccagccccagaacctggagacccatctcccccatctcacaactgctgttacaag c.*120
. . . . . . g.179444
accgtgctggggagtggggcaagggacaggccccactgtcggtgtgcttggcccatccac c.*180
. . . . . . g.179504
tggcacctaccacggagctgaagcctgagcccctcaggaaggtgccttaggcctgttgga c.*240
. . . . . . g.179564
ttcctatttattgcccaccttttcctggagcccaggtccaggcccgccaggactctgcag c.*300
. . . . . . g.179624
gtcactgctagctccagatgagaccgtccagcgttcccccttcaagagaaacactcatcc c.*360
. . . . . . g.179684
cgaacagcctaaaaaattcccatcccttctctctcacccctccatatctatctcccgagt c.*420
. . . . . . g.179744
ggctggacaaaatgagctacgtctgggtgcagtagttataggtggggcaagaggtggatg c.*480
. . . . . . g.179804
cccactttctggtcagacacctttaggttgctctggggaaggctgtcttgctaaatacct c.*540
. . . . . . g.179864
ccagggttcccagcaagtggccaccaggccttgtacaggaagacattcagtcaccgtgta c.*600
. . . . . . g.179924
attagtaacacagaaagtctgcctgtctgcattgtacatagtgtttataatattgtaata c.*660
. . . . . . g.179984
atatattttacctgtggtatgtgggcatgtttactgccactggcctagaggagacacaga c.*720
. . . . . . g.180044
cctggagaccgttttaatgggggtttttgcctctgtgcctgttcaagagacttgcagggc c.*780
. . . . . . g.180104
taggtagagggcctttgggatgttaaggtgactgcagctgatgccaagatggactctgca c.*840
. . . . . . g.180164
atgggcatacctgggggctcgttccctgtccccagaggaagccccctctccttctccatg c.*900
. . . . . . g.180224
ggcatgactctccttcgaggccaccacgtttatctcacaatgatgtgttttgcttgactt c.*960
. . . . . . g.180284
tccctttgcgctgtctcgtgggaaaggtcattctgtctgagaccccagctccttctccag c.*1020
. . . . . . g.180344
ctttggctgcgggcatggcctgagctttctggagagcctctgcagggggtttgccatcag c.*1080
. . . . . . g.180404
ggccctgtggctgggtctgctgcagagctccttggctatcaggagaatcctggacactgt c.*1140
. . . . . . g.180464
actgtgcctcccagtttacaaacacgcccttcatctcaagtggccctttaaaaggcctgc c.*1200
. . . . . . g.180524
tgccatgtgagagctgtgaacagctcagctctgagtcggcaggctggggcttcctcctgg c.*1260
. . . . . . g.180584
gccaccagatggaaagggggtattgtttgcctcactcctggatgctgcgttttaaggaag c.*1320
. . . . . . g.180644
tgagtgagaaagaatgtgccaagatacctggctcctgtgaaaccagcctcaggagggaaa c.*1380
. . . . . . g.180704
ctgggagagagaagctgtggtctcctgctacatgccctgggagctggaagagaaaaacac c.*1440
. . . . . . g.180764
tcccctaaacaatcgcaaaatgatgaaccatcatgggccactgttctctttgaggggaca c.*1500
. . . . . . g.180824
ggtttaggggtttgcgttcgcccttgtgggctgaagcactagctttttggtagctagaca c.*1560
. . . . . . g.180884
catcctgcacccaaaggttctctacaaaggcccagatttgtttgtaaagcactttgactc c.*1620
. . . . . . g.180944
ttacctggaggcccgctctctaagggcttcctgcgctcccacctcatctgtccctgagat c.*1680
. . . . . . g.181004
gcagagcaggatggagggtctgcttctagctcagctgtttctccttgaggttgcggagga c.*1740
. . . . . . g.181064
attgaattgaatgggacagagggcaggtgctgtggccaagaagatctccgagcagcagtg c.*1800
. . . . . . g.181124
acggggcaccttgctgtgtgtcctctgggcatgttaacccttctgtggggccaaaggttt c.*1860
. . . . . . g.181184
gcatcgtggatccagctgtgctccagtctgtcccctcctcctccactctgactgccacgc c.*1920
. . . . . . g.181244
cccggaccagcagcttggggaccctccagggtactaatggggctctgttctgagatggac c.*1980
. . . . . . g.181304
aaattcagtgttggaaatacatgttgtactatgcacttcccatgctcctagggttaggaa c.*2040
. . . . . . g.181364
tagtttcaaacatgattggcagacataacaacggcaaatactcggactggggcataggac c.*2100
. . . . . . g.181424
tccagagtaggaaaaagacaaaagatttggcagcctgacacaggcaacctacccctctct c.*2160
. . . . . . g.181484
ctccagcctctttatgaaactgtttgtttgccagtcctgccctaaggcagaagatgaatt c.*2220
. . . . . . g.181544
gaagatgctgtgcatgtttcctaagtccttgagcaatcatggtggtgacaattgccacaa c.*2280
. . . . . . g.181604
gggatatgaggccagtgccaccagagggtggtgccaagtgccacatcccttccgatccat c.*2340
. . . . . . g.181664
tcccctctgcatcctcggagcaccccagtttgcctttgatgtgtccgctgtgtatgttag c.*2400
. . . . . . g.181724
ctgaactttgatgagcaaaatttcctgagcgaaacactccaaagagataggaaaacttgc c.*2460
. . . . . . g.181784
cgcctcttcttttttgtcccttaatcaaactcaaataagcttaaaaaaaatccatggaag c.*2520
. . . . . . g.181844
atcatggacatgtgaaatgagcatttttttcttttttttttttaacaaagtctgaactga c.*2580
. . . . . . g.181904
acagaacaagactttttcctcatacatctccaaattgtttaaacttactttatgagtgtt c.*2640
. . . . . . g.181964
tgtttagaagttcggaccaacagaaaaatgcagtcagatgtcatcttggaattggtttct c.*2700
. . . . . . g.182024
aaaagagtaaggcatgtccctgcccagaaacttaggaagcatgaaataaatcaaatgttt c.*2760
. . . . . . g.182084
attttccttcttatttaaaatcatgcaaatgcaacagaaatagagggtttgtgccaaatg c.*2820
. . . . . . g.182144
ctatgaacggccctttcttaaagacaagcaagggagattgatatatgtacaatttgctct c.*2880
. . . . . . g.182204
catgttttaaaaaaaaaaaggtaaatgtaacttaatagttttgtaaatgggagaggggga c.*2940
. . . . . . g.182264
atctataaactataaatacagttattttattttttgtacatttttaaggagaaaaaataa c.*3000
. . g.182287
atattcataacataagagtaaaa c.*3023
(downstream sequence)
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