Canonical Allele Identifier: CA994140747
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2094204950
gnomAD v3: 19-17826905-GTGAACC-G
gnomAD v4: 19-17826905-GTGAACC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826909_17826914del , CM000681.2:g.17826909_17826914del GRCh38
NC_000019.9:g.17937718_17937723del , CM000681.1:g.17937718_17937723del GRCh37
NC_000019.8:g.17798718_17798723del NCBI36
NG_007273.1:g.26081_26086del , LRG_77:g.26081_26086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-1_*1769del
ENST00000696967.1:n.2385-1_2389del
ENST00000696968.1:n.441-1_445del
ENST00000696969.1:n.2165-1_2169del
ENST00000458235.7:c.3208-1_3212del
ENST00000458235.5:c.3208-1_3212del
ENST00000527031.5:n.2279-1601_2279-1596del
ENST00000527670.5:c.3208-1_3212del
NM_000215.3:c.3208-1_3212del , LRG_77t1:c.3208-1_3212del
XM_005259896.2:c.3337-1_3341del
XM_006722745.2:c.3208-1_3212del
XM_005259896.3:c.3337-1_3341del
NM_000215.4:c.3208-1_3212del
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