(used for variant description)
(last modified September 12, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001142784.2 in the IL11RA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028966.1, covering IL11RA transcript NM_001142784.2.
(upstream sequence)
. . . . g.5049
agagggcgagggcgagggcagagggcgctggcggcagcggccgcggaag c.-1
| 02 . . . . . . g.8093
| ATGAGCAGCAGCTGCTCAGGGCTGAGCAGGGTCCTGGTGGCCGTGGCTACAGCCCTGGTG c.60
| M S S S C S G L S R V L V A V A T A L V p.20
. . . . | 03 . . g.8440
TCTGCCTCCTCCCCCTGCCCCCAGGCCTGGGGCCCCCCAG | GGGTCCAGTATGGGCAGCCA c.120
S A S S P C P Q A W G P P G | V Q Y G Q P p.40
. . . . | 04 . . g.9573
GGCAGGTCCGTGAAGCTGTGTTGTCCTGGAGTGACTGCCGG | GGACCCAGTGTCCTGGTTT c.180
G R S V K L C C P G V T A G | D P V S W F p.60
. . . . . . g.9633
CGGGATGGGGAGCCAAAGCTGCTCCAGGGACCTGACTCTGGGCTAGGGCATGAACTGGTC c.240
R D G E P K L L Q G P D S G L G H E L V p.80
. . . . . . g.9693
CTGGCCCAGGCAGACAGCACTGATGAGGGCACCTACATCTGCCAGACCCTGGATGGTGCA c.300
L A Q A D S T D E G T Y I C Q T L D G A p.100
. . . | 05 . . . g.9879
CTTGGGGGCACAGTGACCCTGCAGCTGGGCT | ACCCTCCAGCCCGCCCTGTTGTCTCCTGC c.360
L G G T V T L Q L G Y | P P A R P V V S C p.120
. . . . . . g.9939
CAAGCAGCCGACTATGAGAACTTCTCTTGCACTTGGAGTCCCAGCCAGATCAGCGGTTTA c.420
Q A A D Y E N F S C T W S P S Q I S G L p.140
. . | 06 . . . | 07 g.10237
CCCACCCGCTACCTCACCTCCTACAG | GAAGAAGACAGTCCTAGGAGCTGATAGCCAGAG | G c.480
P T R Y L T S Y R | K K T V L G A D S Q R | p.160
. . . . . . g.10297
AGGAGTCCATCCACAGGGCCCTGGCCATGCCCACAGGATCCCCTAGGGGCTGCCCGCTGT c.540
R S P S T G P W P C P Q D P L G A A R C p.180
. . . . . . g.10357
GTTGTCCACGGGGCTGAGTTCTGGAGCCAGTACCGGATTAATGTGACTGAGGTGAACCCA c.600
V V H G A E F W S Q Y R I N V T E V N P p.200
. . . . | 08 . . g.11349
CTGGGTGCCAGCACACGCCTGCTGGATGTGAGCTTGCAGAGCATCT | TGCGCCCTGACCCA c.660
L G A S T R L L D V S L Q S I L | R P D P p.220
. . . . . . g.11409
CCCCAGGGCCTGCGGGTAGAGTCAGTACCAGGTTACCCCCGACGCCTGCGAGCCAGCTGG c.720
P Q G L R V E S V P G Y P R R L R A S W p.240
. . . . . . g.11469
ACATACCCTGCCTCCTGGCCGTGCCAGCCCCACTTCCTGCTCAAGTTCCGTTTGCAGTAC c.780
T Y P A S W P C Q P H F L L K F R L Q Y p.260
. . . | 09 . . . g.12604
CGTCCGGCGCAGCATCCAGCCTGGTCCACG | GTGGAGCCAGCTGGACTGGAGGAGGTGATC c.840
R P A Q H P A W S T | V E P A G L E E V I p.280
. . . . . . g.12664
ACAGATGCTGTGGCTGGGCTGCCCCATGCTGTACGAGTCAGTGCCCGGGACTTTCTAGAT c.900
T D A V A G L P H A V R V S A R D F L D p.300
. . . . . | 10 . g.13097
GCTGGCACCTGGAGCACCTGGAGCCCGGAGGCCTGGGGAACTCCGAGCACTG | GGACCATA c.960
A G T W S T W S P E A W G T P S T G | T I p.320
. . . . . . g.13157
CCAAAGGAGATACCAGCATGGGGCCAGCTACACACGCAGCCAGAGGTGGAGCCTCAGGTG c.1020
P K E I P A W G Q L H T Q P E V E P Q V p.340
. . . . . | 11 . g.13327
GACAGCCCTGCTCCTCCAAGGCCCTCCCTCCAACCACACCCTCGGCTACTTG | ATCACAGG c.1080
D S P A P P R P S L Q P H P R L L D | H R p.360
. . . . . . g.13387
GACTCTGTGGAGCAGGTAGCTGTGCTGGCGTCTTTGGGAATCCTTTCTTTCCTGGGACTG c.1140
D S V E Q V A V L A S L G I L S F L G L p.380
. . | 12 . . . g.13700
GTGGCTGGGGCCCTGGCACTGGGGCTCTG | GCTGAGGCTGAGACGGGGTGGGAAGGATGGA c.1200
V A G A L A L G L W | L R L R R G G K D G p.400
. . . . . | 13 . g.14305
TCCCCAAAGCCTGGGTTCTTGGCCTCAGTGATTCCAGTGGACAGGCGTCCAG | GAGCTCCA c.1260
S P K P G F L A S V I P V D R R P G | A P p.420
g.14314
AACCTGTAG c.1269
N L X p.422
. . . . . . g.14374
aggacccaggagggcttcggcagattccacctataattctgtcttgctggtgtggataga c.*60
. . . . . . g.14434
aaccaggcaggacagtagatccctatggttggatctcagctggaagttctgtttggagcc c.*120
. . . . . . g.14494
catttctgtgagaccctgtatttcaaatttgcagctgaaaggtgcttgtacctctgattt c.*180
. . . . . . g.14554
caccccagagttggagttctgctcaaggaacgtgtgtaatgtgtacatctgtgtccatgt c.*240
. . . . . . g.14614
gtgaccatgtgtctgtgaggcagggaacatgtattctctgcatgcatgtatgtaggtgcc c.*300
. . . . . . g.14674
tggggagtgtgtgtgggtccttggctcttggcctttccccttgcaggggttgtgcaggtg c.*360
. . . . g.14718
tgaataaagagaataaggaagttcttggagattatactcagaaa c.*404
(downstream sequence)
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