(used for variant description)
(last modified March 8, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001807.4 in the CEL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering CEL transcript NM_001807.4.
(upstream sequence)
. g.5016
ggccacccagaggctg c.-1
. . . . . . g.5076
ATGCTCACCATGGGGCGCCTGCAACTGGTTGTGTTGGGCCTCACCTGCTGCTGGGCAGTG c.60
M L T M G R L Q L V V L G L T C C W A V p.20
. | 02 . . . . . g.7471
GCGAGTGCCGCGAAG | CTGGGCGCCGTGTACACAGAAGGTGGGTTCGTGGAAGGCGTCAAT c.120
A S A A K | L G A V Y T E G G F V E G V N p.40
. . . . . . g.7531
AAGAAGCTCGGCCTCCTGGGTGACTCTGTGGACATCTTCAAGGGCATCCCCTTCGCAGCT c.180
K K L G L L G D S V D I F K G I P F A A p.60
. . . . | 03 . . g.7676
CCCACCAAGGCCCTGGAAAATCCTCAGCCACATCCTGGCTGGCAAG | GGACCCTGAAGGCC c.240
P T K A L E N P Q P H P G W Q G | T L K A p.80
. . . . . . g.7736
AAGAACTTCAAGAAGAGATGCCTGCAGGCCACCATCACCCAGGACAGCACCTACGGGGAT c.300
K N F K K R C L Q A T I T Q D S T Y G D p.100
. . . . | 04 . g.8073
GAAGACTGCCTGTACCTCAACATTTGGGTGCCCCAGGGCAGGAAGCAAG | TCTCCCGGGAC c.360
E D C L Y L N I W V P Q G R K Q V | S R D p.120
. . . . . . g.8133
CTGCCCGTTATGATCTGGATCTATGGAGGCGCCTTCCTCATGGGGTCCGGCCATGGGGCC c.420
L P V M I W I Y G G A F L M G S G H G A p.140
. . . . . . g.8193
AACTTCCTCAACAACTACCTGTATGACGGCGAGGAGATCGCCACACGCGGAAACGTCATC c.480
N F L N N Y L Y D G E E I A T R G N V I p.160
. . . . . . g.8253
GTGGTCACCTTCAACTACCGTGTCGGCCCCCTTGGGTTCCTCAGCACTGGGGACGCCAAT c.540
V V T F N Y R V G P L G F L S T G D A N p.180
| 05. . . . . . g.9605
CTGCCAG | GTAACTATGGCCTTCGGGATCAGCACATGGCCATTGCTTGGGTGAAGAGGAAT c.600
L P G | N Y G L R D Q H M A I A W V K R N p.200
. . . . . . g.9665
ATCGCGGCCTTCGGGGGGGACCCCAACAACATCACGCTCTTCGGGGAGTCTGCTGGAGGT c.660
I A A F G G D P N N I T L F G E S A G G p.220
. | 06 . . . . g.9902
GCCAGCGTCTCTCTGCAG | ACCCTCTCCCCCTACAACAAGGGCCTCATCCGGCGAGCCATC c.720
A S V S L Q | T L S P Y N K G L I R R A I p.240
. . . . . . g.9962
AGCCAGAGCGGCGTGGCCCTGAGTCCCTGGGTCATCCAGAAAAACCCACTCTTCTGGGCC c.780
S Q S G V A L S P W V I Q K N P L F W A p.260
| 07 . . . . . . g.10164
AAAAAG | GTGGCTGAGAAGGTGGGTTGCCCTGTGGGTGATGCCGCCAGGATGGCCCAGTGT c.840
K K | V A E K V G C P V G D A A R M A Q C p.280
. . . . . . g.10224
CTGAAGGTTACTGATCCCCGAGCCCTGACGCTGGCCTATAAGGTGCCGCTGGCAGGCCTG c.900
L K V T D P R A L T L A Y K V P L A G L p.300
| 08 . . . . . . g.11750
GAGT | ACCCCATGCTGCACTATGTGGGCTTCGTCCCTGTCATTGATGGAGACTTCATCCCC c.960
E Y | P M L H Y V G F V P V I D G D F I P p.320
. . . . . . g.11810
GCTGACCCGATCAACCTGTACGCCAACGCCGCCGACATCGACTATATAGCAGGCACCAAC c.1020
A D P I N L Y A N A A D I D Y I A G T N p.340
. . . . . . g.11870
AACATGGACGGCCACATCTTCGCCAGCATCGACATGCCTGCCATCAACAAGGGCAACAAG c.1080
N M D G H I F A S I D M P A I N K G N K p.360
. | 09 . . . . . g.12127
AAAGTCACGGA | GGAGGACTTCTACAAGCTGGTCAGTGAGTTCACAATCACCAAGGGGCTC c.1140
K V T E | E D F Y K L V S E F T I T K G L p.380
. . . . . . g.12187
AGAGGCGCCAAGACGACCTTTGATGTCTACACCGAGTCCTGGGCCCAGGACCCATCCCAG c.1200
R G A K T T F D V Y T E S W A Q D P S Q p.400
. . . . . . g.12247
GAGAATAAGAAGAAGACTGTGGTGGACTTTGAGACCGATGTCCTCTTCCTGGTGCCCACC c.1260
E N K K K T V V D F E T D V L F L V P T p.420
. . . | 10 . . . g.13508
GAGATTGCCCTAGCCCAGCACAGAGCCAATGCCAA | GAGTGCCAAGACCTACGCCTACCTG c.1320
E I A L A Q H R A N A K | S A K T Y A Y L p.440
. . . . . . g.13568
TTTTCCCATCCCTCTCGGATGCCCGTCTACCCCAAATGGGTGGGGGCCGACCATGCAGAT c.1380
F S H P S R M P V Y P K W V G A D H A D p.460
. . . . . . g.13628
GACATTCAGTACGTTTTCGGGAAGCCCTTCGCCACCCCCACGGGCTACCGGCCCCAAGAC c.1440
D I Q Y V F G K P F A T P T G Y R P Q D p.480
. . . . . | 11 . g.14016
AGGACAGTCTCTAAGGCCATGATCGCCTACTGGACCAACTTTGCCAAAACAGG | GGACCCC c.1500
R T V S K A M I A Y W T N F A K T G | D P p.500
. . . . . . g.14076
AACATGGGCGACTCGGCTGTGCCCACACACTGGGAACCCTACACTACGGAAAACAGCGGC c.1560
N M G D S A V P T H W E P Y T T E N S G p.520
. . . . . . g.14136
TACCTGGAGATCACCAAGAAGATGGGCAGCAGCTCCATGAAGCGGAGCCTGAGAACCAAC c.1620
Y L E I T K K M G S S S M K R S L R T N p.540
. . . . . . g.14196
TTCCTGCGCTACTGGACCCTCACCTATCTGGCGCTGCCCACAGTGACCGACCAGGAGGCC c.1680
F L R Y W T L T Y L A L P T V T D Q E A p.560
. . . . . . g.14256
ACCCCTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCC c.1740
T P V P P T G D S E A T P V P P T G D S p.580
. . . . . . g.14316
GAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGT c.1800
E T A P V P P T G D S G A P P V P P T G p.600
. . . . . . g.14376
GACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC c.1860
D S G A P P V P P T G D S G A P P V P P p.620
. . . . . . g.14436
ACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTG c.1920
T G D S G A P P V P P T G D S G A P P V p.640
. . . . . . g.14496
CCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCC c.1980
P P T G D S G A P P V P P T G D S G A P p.660
. . . . . . g.14556
CCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGG c.2040
P V P P T G D S G A P P V P P T G D A G p.680
. . . . . . g.14616
CCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGAC c.2100
P P P V P P T G D S G A P P V P P T G D p.700
. . . . . . g.14676
TCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACG c.2160
S G A P P V T P T G D S E T A P V P P T p.720
. . . . . . g.14736
GGTGACTCCGGGGCCCCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCC c.2220
G D S G A P P V P P T G D S E A A P V P p.740
. . . . . g.14787
CCCACAGATGACTCCAAGGAAGCTCAGATGCCTGCAGTCATTAGGTTTTAG c.2271
P T D D S K E A Q M P A V I R F X p.756
. . . . . . g.14847
cgtcccatgagccttggtatcaagaggccacaagagtgggaccccaggggctcccctccc c.*60
. . . g.14886
atcttgagctcttcctgaataaagcctcatacccctgtc c.*99
(downstream sequence)
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