Canonical Allele Identifier: CA783871711
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1351384153
MyVariant Identifiers: chr19:g.17937542_17937543insG (hg19) chr19:g.17826733_17826734insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826736dup , CM000681.2:g.17826736dup GRCh38
NC_000019.9:g.17937545dup , CM000681.1:g.17937545dup GRCh37
NC_000019.8:g.17798545dup NCBI36
NG_007273.1:g.26258dup , LRG_77:g.26258dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1941dup ENSP00000513006.1:n.*1941dup
ENST00000696967.1:n.2561dup
ENST00000696968.1:n.617dup
ENST00000696969.1:n.2341dup
ENST00000458235.7:c.*9dup MANE Select ENSP00000391676.1:n.*9dup
ENST00000458235.5:c.*9dup ENSP00000391676.1:n.*9dup
ENST00000527031.5:n.2279-1424dup
ENST00000527670.5:c.*9dup ENSP00000432511.1:n.*9dup
NM_000215.3:c.*9dup , LRG_77t1:c.*9dup NP_000206.2:n.*9dup
XM_005259896.2:c.*9dup XP_005259953.1:n.*9dup
XM_006722745.2:c.*9dup XP_006722808.1:n.*9dup
XM_005259896.3:c.*9dup XP_005259953.1:n.*9dup
NM_000215.4:c.*9dup MANE Select NP_000206.2:n.*9dup
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