(used for variant description)
(last modified December 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003836.5 in the DLK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016863.1, covering DLK1 transcript NM_003836.5.
(upstream sequence)
. . g.5024
gaaaagggcggcgcgcgcggcggc c.-181
. . . . . . g.5084
ggcggcagctccccggcagcggcggtggagagcgcagcgcgcagcccggtgcagccctgg c.-121
. . . . . . g.5144
ctttcccctcgctgcgcgcccgcgccccctttcgcgtccgcaaccagaagcccagtgcgg c.-61
. . . . . . g.5204
cgccaggagccggacccgcgcccgcaccgctcccgggaccgcgaccccggccgcccagag c.-1
. . . . . . g.5264
ATGACCGCGACCGAAGCCCTCCTGCGCGTCCTCTTGCTCCTGCTGGCTTTCGGCCACAGC c.60
M T A T E A L L R V L L L L L A F G H S p.20
| 02. . . . . . g.6584
ACCTATG | GGGCTGAATGCTTCCCGGCCTGCAACCCCCAAAATGGATTCTGCGAGGATGAC c.120
T Y G | A E C F P A C N P Q N G F C E D D p.40
. | 03 . . . . . g.7120
AATGTTTGCAG | GTGCCAGCCTGGCTGGCAGGGTCCCCTTTGTGACCAGTGCGTGACCTCT c.180
N V C R | C Q P G W Q G P L C D Q C V T S p.60
. . . . . . g.7180
CCCGGCTGCCTTCACGGACTCTGTGGAGAACCCGGGCAGTGCATTTGCACCGACGGCTGG c.240
P G C L H G L C G E P G Q C I C T D G W p.80
. . | 04 . . . . g.10215
GACGGGGAGCTCTGTGATAGAG | ATGTTCGGGCCTGCTCCTCGGCCCCCTGTGCCAACAAC c.300
D G E L C D R D | V R A C S S A P C A N N p.100
. . . . . . g.10275
GGGACCTGCGTGAGCCTGGACGATGGCCTCTATGAATGCTCCTGTGCCCCCGGGTACTCG c.360
G T C V S L D D G L Y E C S C A P G Y S p.120
. . . . | 05 . . g.12300
GGAAAGGACTGCCAGAAAAAGGACGGGCCCTGTGTGATCAACGG | CTCCCCCTGCCAGCAC c.420
G K D C Q K K D G P C V I N G | S P C Q H p.140
. . . . . . g.12360
GGAGGCACCTGCGTGGATGATGAGGGCCGGGCCTCCCATGCCTCCTGCCTGTGCCCCCCT c.480
G G T C V D D E G R A S H A S C L C P P p.160
. . . . . . g.12420
GGCTTCTCAGGCAATTTCTGCGAGATCGTGGCCAACAGCTGCACCCCCAACCCATGCGAG c.540
G F S G N F C E I V A N S C T P N P C E p.180
. . . . . . g.12480
AACGACGGCGTCTGCACTGACATTGGGGGCGACTTCCGCTGCCGGTGCCCAGCCGGCTTC c.600
N D G V C T D I G G D F R C R C P A G F p.200
. . . . . . g.12540
ATCGACAAGACCTGCAGCCGCCCGGTGACCAACTGCGCCAGCAGCCCGTGCCAGAACGGG c.660
I D K T C S R P V T N C A S S P C Q N G p.220
. . . . . . g.12600
GGCACCTGCCTGCAGCACACCCAGGTGAGCTACGAGTGTCTGTGCAAGCCCGAGTTCACA c.720
G T C L Q H T Q V S Y E C L C K P E F T p.240
. . . . . . g.12660
GGTCTCACCTGTGTCAAGAAGCGCGCGCTGAGCCCCCAGCAGGTCACCCGTCTGCCCAGC c.780
G L T C V K K R A L S P Q Q V T R L P S p.260
. . . . . . g.12720
GGCTATGGGCTGGCCTACCGCCTGACCCCTGGGGTGCACGAGCTGCCGGTGCAGCAGCCG c.840
G Y G L A Y R L T P G V H E L P V Q Q P p.280
. . . . . . g.12780
GAGCACCGCATCCTGAAGGTGTCCATGAAAGAGCTCAACAAGAAAACCCCTCTCCTCACC c.900
E H R I L K V S M K E L N K K T P L L T p.300
. . . . . . g.12840
GAGGGCCAGGCCATCTGCTTCACCATCCTGGGCGTGCTCACCAGCCTGGTGGTGCTGGGC c.960
E G Q A I C F T I L G V L T S L V V L G p.320
. . . . . . g.12900
ACTGTGGGTATCGTCTTCCTCAACAAGTGCGAGACCTGGGTGTCCAACCTGCGCTACAAC c.1020
T V G I V F L N K C E T W V S N L R Y N p.340
. . . . . . g.12960
CACATGCTGCGGAAGAAGAAGAACCTGCTGCTTCAGTACAACAGCGGGGAGGACCTGGCC c.1080
H M L R K K K N L L L Q Y N S G E D L A p.360
. . . . . . g.13020
GTCAACATCATCTTCCCCGAGAAGATCGACATGACCACCTTCAGCAAGGAGGCCGGCGAC c.1140
V N I I F P E K I D M T T F S K E A G D p.380
. g.13032
GAGGAGATCTAA c.1152
E E I X p.383
. . . . . . g.13092
gcagcgttcccacagccccctctagattcttggagttccgcagagcttactatacgcggt c.*60
. . . . . . g.13152
ctgtcctaatctttgtggtgttcgctatctcttgtgtcaaatctggtgaacgctacgctt c.*120
. . . . . . g.13212
acatatattgtctttgtgctgctgtgtgacaaacgcaatgcaaaaacaatcctctttctc c.*180
. . . . . g.13266
tctcttaatgcatgatacagaataataataagaatttcatctttaaatgagtaa c.*234
(downstream sequence)
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