(used for variant description)
(last modified June 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001936.3 in the DPP6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033878.1, covering DPP6 transcript NM_001936.3.
(upstream sequence)
. . . . . g.422981
actaagcagcggcagcttcctgcttcggatcctctctctgctgcttgcattta c.-181
. . . . . . g.423041
aagagcaaactcgtcttgtctacccaccctccctcccccatcctccccaaaatagccttg c.-121
. . . . . . g.423101
tgatttcggaagtatggactaaaatcacactcctccttaccttaccgcttggactctggt c.-61
. . . . . . g.423161
ggctcccaactcgccgtcagaccccacctgccccggtggtgggaagcgcctggacagacc c.-1
. . . . . | 02. g.563883
ATGACCACAGCCAAGGAGCCAAGCGCTTCGGGGAAATCCGTGCAGCAGCAGGAACAG | GAG c.60
M T T A K E P S A S G K S V Q Q Q E Q | E p.20
. . . . . . g.563943
CTGGTGGGGAGTAACCCTCCGCAGAGGAATTGGAAAGGAATAGCAATTGCACTGCTTGTC c.120
L V G S N P P Q R N W K G I A I A L L V p.40
. . . . . | 03 . g.592613
ATTCTGGTCATCTGCTCCTTGATCGTCACCTCGGTCATACTTCTGACACCAG | CGGAAGAT c.180
I L V I C S L I V T S V I L L T P A | E D p.60
. . . . . . g.592673
AATAGTCTGTCTCAAAAGAAGAAGGTCACTGTAGAAGATCTCTTCAGTGAAGACTTCAAA c.240
N S L S Q K K K V T V E D L F S E D F K p.80
. . . | 04 . . . g.658227
ATTCATGACCCCGAGGCTAAGTGGATAAGTG | ATACAGAATTCATCTACAGAGAACAGAAA c.300
I H D P E A K W I S D | T E F I Y R E Q K p.100
. . . . . . g.658287
GGAACAGTGAGACTGTGGAATGTTGAAACAAATACTTCTACTGTCTTAATAGAAGGCAAA c.360
G T V R L W N V E T N T S T V L I E G K p.120
| 05 . . . . . . g.684562
AAAATT | GAATCATTAAGAGCCATCAGATATGAAATATCTCCAGATAGAGAGTATGCACTT c.420
K I | E S L R A I R Y E I S P D R E Y A L p.140
. . | 06 . . . . g.755526
TTTTCATACAATGTGGAACCC | ATATATCAACACTCGTATACTGGATATTACGTCCTGAGC c.480
F S Y N V E P | I Y Q H S Y T G Y Y V L S p.160
. | 07 . . . . . g.787072
AAAATTCCTCATGG | GGATCCTCAAAGTCTGGACCCACCAGAAGTCAGCAATGCAAAACTT c.540
K I P H G | D P Q S L D P P E V S N A K L p.180
. . . | 08 . . . g.845457
CAGTATGCAGGATGGGGCCCTAAAGGCCAACAGCTG | ATATTTATTTTTGAAAACAATATC c.600
Q Y A G W G P K G Q Q L | I F I F E N N I p.200
. . . . . . g.845517
TACTACTGTGCACATGTCGGGAAACAGGCCATCCGTGTGGTCTCCACTGGCAAGGAAGGT c.660
Y Y C A H V G K Q A I R V V S T G K E G p.220
. . . | 09. . . g.887106
GTGATTTACAATGGCCTCAGTGACTGGCTGTATGAAG | AGGAGATTTTGAAGACACACATC c.720
V I Y N G L S D W L Y E E | E I L K T H I p.240
. . . . . . g.887166
GCACACTGGTGGTCTCCGGATGGCACGAGACTCGCCTACGCCGCCATCAATGATTCCCGT c.780
A H W W S P D G T R L A Y A A I N D S R p.260
. . . . . . g.887226
GTCCCCATCATGGAGCTCCCAACTTACACCGGCTCCATCTACCCCACCGTGAAGCCCTAC c.840
V P I M E L P T Y T G S I Y P T V K P Y p.280
. | 10 . . . . . g.890559
CACTATCCCAAG | GCTGGAAGTGAGAACCCCAGCATTTCCCTACACGTTATTGGCTTAAAT c.900
H Y P K | A G S E N P S I S L H V I G L N p.300
. . . . . | 11 . g.911755
GGACCCACCCATGATCTGGAGATGATGCCGCCTGATGATCCACGGATGAG | GGAGTACTAC c.960
G P T H D L E M M P P D D P R M R | E Y Y p.320
. . . . . . g.911815
ATCACCATGGTGAAGTGGGCCACCAGCACCAAGGTCGCCGTGACCTGGCTGAACCGGGCG c.1020
I T M V K W A T S T K V A V T W L N R A p.340
. . . . . | 12 . g.913517
CAGAACGTGTCCATCCTCACCCTCTGCGACGCCACCACGGGGGTCTGCACGAAG | AAACAC c.1080
Q N V S I L T L C D A T T G V C T K | K H p.360
. . . | 13 . . . g.919048
GAGGATGAAAGTGAGGCCTGGCTCCACAGACAG | AATGAAGAACCTGTGTTCTCCAAGGAT c.1140
E D E S E A W L H R Q | N E E P V F S K D p.380
. . . . . . g.919108
GGCCGAAAGTTTTTCTTCATCAGAGCCATCCCCCAGGGAGGACGAGGGAAATTCTATCAC c.1200
G R K F F F I R A I P Q G G R G K F Y H p.400
. . | 14 . . . . g.921569
ATCACGGTGTCCTCGTCCCAG | CCCAACAGCAGCAACGACAACATCCAGTCCATCACCTCC c.1260
I T V S S S Q | P N S S N D N I Q S I T S p.420
. . . . . | 15 . g.922590
GGGGACTGGGACGTGACCAAGATCCTAGCCTACGATGAGAAGGGGAATAAGAT | CTACTTC c.1320
G D W D V T K I L A Y D E K G N K I | Y F p.440
. . . . | 16 . . g.924679
CTGAGCACGGAGGACCTGCCTCGGAGACGACAACTCTACAG | TGCCAACACGGTGGGCAAC c.1380
L S T E D L P R R R Q L Y S | A N T V G N p.460
. . . . . . g.924739
TTCAACAGGCAGTGCCTCTCCTGTGACCTGGTTGAGAACTGCACCTACTTCAGCGCTTCC c.1440
F N R Q C L S C D L V E N C T Y F S A S p.480
. . . . | 17 . . g.971466
TTCAGCCATAGCATGGACTTCTTCCTGCTCAAGTGCGAAG | GTCCTGGTGTTCCTATGGTG c.1500
F S H S M D F F L L K C E G | P G V P M V p.500
. . | 18 . . . g.985693
ACGGTGCACAACACAACAGATAAGAAAA | AAATGTTTGACCTAGAAACAAATGAACATGTC c.1560
T V H N T T D K K K | M F D L E T N E H V p.520
. . . . . . g.985753
AAGAAGGCCATAAATGACCGACAGATGCCTAAAGTGGAATACAGGGACATTGAGATTGAT c.1620
K K A I N D R Q M P K V E Y R D I E I D p.540
| 19. . . . . . g.990343
GATTACA | ACCTGCCCATGCAGATACTGAAGCCAGCAACCTTCACCGACACCACCCACTAC c.1680
D Y N | L P M Q I L K P A T F T D T T H Y p.560
. | 20. . . . . g.993615
CCTCTGCTCCTGGTGGT | GGATGGCACCCCAGGCAGCCAGAGTGTGGCTGAGAAGTTCGAG c.1740
P L L L V V | D G T P G S Q S V A E K F E p.580
. . . . . . g.993675
GTGAGCTGGGAGACGGTGATGGTGAGCAGCCACGGCGCGGTGGTGGTAAAGTGTGACGGC c.1800
V S W E T V M V S S H G A V V V K C D G p.600
. . . . . . g.993735
CGTGGCAGCGGCTTCCAAGGGACCAAGCTCCTGCACGAAGTGAGGCGGCGGCTGGGCTTG c.1860
R G S G F Q G T K L L H E V R R R L G L p.620
. . . | 21 . . . g.998582
CTGGAGGAGAAGGACCAGATGGAGGCCGTGCG | GACGATGCTGAAGGAGCAGTACATTGAC c.1920
L E E K D Q M E A V R | T M L K E Q Y I D p.640
. . | 22. . . . g.1003332
AGGACGCGCGTGGCCGTGTTTGGGAAG | GATTACGGTGGCTACCTGAGCACCTACATCCTC c.1980
R T R V A V F G K | D Y G G Y L S T Y I L p.660
. . . . . . g.1003392
CCAGCAAAGGGAGAAAATCAAGGCCAGACATTCACCTGCGGCTCTGCTCTCTCTCCAATA c.2040
P A K G E N Q G Q T F T C G S A L S P I p.680
. | 23 . . . . g.1005383
ACAGACTTCAAACTCTATG | CCTCTGCGTTTTCCGAGAGGTACTTGGGCCTCCATGGACTT c.2100
T D F K L Y A | S A F S E R Y L G L H G L p.700
. | 24 . . . . g.1006980
GACAACAGAGCATACGAG | ATGACCAAGGTAGCCCATCGAGTCTCCGCGCTGGAAGAACAG c.2160
D N R A Y E | M T K V A H R V S A L E E Q p.720
. . . | 25 . . . g.1007152
CAGTTCCTGATCATTCATCCCACTGCCGATG | AAAAAATTCATTTCCAGCACACAGCAGAA c.2220
Q F L I I H P T A D E | K I H F Q H T A E p.740
. . . . | 26 . . g.1010015
CTCATTACACAACTAATTAGGGGAAAGGCTAATTACAGCTTACAG | ATTTACCCGGACGAA c.2280
L I T Q L I R G K A N Y S L Q | I Y P D E p.760
. . . . . . g.1010075
AGCCATTACTTTACCAGCTCCAGCCTCAAACAGCATCTGTACCGGTCCATCATCAACTTC c.2340
S H Y F T S S S L K Q H L Y R S I I N F p.780
. . . . . . g.1010135
TTCGTGGAATGCTTCAGGATCCAGGACAAACTGCTGACAGTCACAGCGAAAGAGGACGAG c.2400
F V E C F R I Q D K L L T V T A K E D E p.800
. g.1010147
GAGGAGGACTAA c.2412
E E D X p.803
. . . . . . g.1010207
gctcaggtcgctctaagcacaaacgtggctctttctacaaccagatgcaaccgagggatt c.*60
. . . . . . g.1010267
tccctgccctccctcttccctcggaggggcggggcggggcggggccgggtgttccatagc c.*120
. . . . . . g.1010327
atgtgtgtctcggatgcggaaggcagttttgcttgggaaacaagctccttccccggggtc c.*180
. . . . . . g.1010387
atcactcacggcctccatggcaccagggacaacgctgtccccgcagcagcgcctcctccc c.*240
. . . . . . g.1010447
ggcgcccgagagaccggcacgccacggcccctcccccaaggaacagagcaaaggatggtg c.*300
. . . . . . g.1010507
gccgcaggccccacgcgagcccacaggacaccggcccctagattccagccaccaagcgga c.*360
. . . . . . g.1010567
agcatgagacccgcccacactagcctctgtgttcccgttagggacatcacaccctgtctc c.*420
. . . . . . g.1010627
acgtcgcagtgccatggacgcagcagttacagcaccattgttttagcagtgcgtgttcat c.*480
. . . . . . g.1010687
atatgggcttgctacttcctgtaatgaggacgttcaacatggtgaggggctacaagaaaa c.*540
. . . . . . g.1010747
cgcttttctgtacagagtcttactgtagctacgctaatggttaacctgatagaattaact c.*600
. . . . . . g.1010807
cgtatttttctatggttttaacctgatgctccactgtctccgtcatggggttgttttgct c.*660
. . . . . . g.1010867
gtttggggttgggccttgtttccctttcctttctccagtccacgtgtagactttgcgctt c.*720
. . . . . . g.1010927
gatgaagaagcagatcggaagtaactgctccctcctcaaggttgtcttcagacgtcttgg c.*780
. . . . . . g.1010987
ggacgttcctaaacactgagggggaagacagccaatagcacccattaaaagaaataccta c.*840
. . . . . . g.1011047
aataaaacctctctcccactcagctatgctagggcttggctgtaggtgtgcactgtctat c.*900
. . . . . . g.1011107
ttacatccgtccttacaaccatccttgtcctccttggtaccgtatcaagctctttcccat c.*960
. . . . . . g.1011167
gacatttggtttaaaaaaaaaaaaaaaaaaaaaaaaaaaacagaaaaaagacaaagcgtc c.*1020
. . . . . . g.1011227
aactccacccacaggcccgctgtgtgtgctcgggccacgggagtcctgagggttctgtgg c.*1080
. . . . . . g.1011287
gcctgcgcgcatccctctcccatcgtgggggtggctccgtgaccttcctgccacgagcag c.*1140
. . . . . . g.1011347
gaggttgatgatgtgctacgttagccttgtaagatacacccccaccaaatgtgcagccgg c.*1200
. . . . . . g.1011407
tgttcccagtgtatatttcattctcttgtatataaaggaagcaatgtgtgtcaggcctct c.*1260
. . . . . . g.1011467
gtgcagtcaacccagcctcctcccgccagtgctaaccccgtgttgagcctgcatgctgac c.*1320
. . . . . . g.1011527
actgtggccgatctggactctagaagtgctagtttgaaatatatccattactgtcatttc c.*1380
. . . . . . g.1011587
cttttgagcttgtggacaagctgaatgtcaggactgacttcgccagctcccagccctgcg c.*1440
. . . . . . g.1011647
ggggtgtccttggcatcccatcagcagaggagatgcgtccctgttgcattttggcgtttg c.*1500
. . . . . . g.1011707
gggctttgggtttatccacatgagctctgaacgtccgttatagttagggtgattggaagg c.*1560
. . . . . . g.1011767
tctccatcactgggtgttttaaaggtgattcaccaccatttgtgaaaggaccaacgtgct c.*1620
. . . . . . g.1011827
gataaacaggaccgatccgagtgctacatgactgtgcgtttgctatttcaatgggcctga c.*1680
. . . . . . g.1011887
acgactacaaagccagctaggtctggaaggggaagccagctctggccacgacatctggtc c.*1740
. . . . . . g.1011947
ggagggaagtggggatgtggcatggtagcgtctgttcatccatggaataaaacattattt c.*1800
g.1011952
tacca c.*1805
(downstream sequence)
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