Canonical Allele Identifier: CA2326051212

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830013_17830021delinsCTTCTCAGT , CM000681.2:g.17830013_17830021delinsCTTCTCAGT	GRCh38
NC_000019.9:g.17940822_17940830delinsCTTCTCAGT , CM000681.1:g.17940822_17940830delinsCTTCTCAGT	GRCh37
NC_000019.8:g.17801822_17801830delinsCTTCTCAGT	NCBI36
NG_007273.1:g.22971_22979delinsACTGAGAAG , LRG_77:g.22971_22979delinsACTGAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+87_*1764+95delinsACTGAGAAG	ENSP00000513006.1:n.*1764+87_*1764+95delinsACTGAGAAG
ENST00000696967.1:n.2384+87_2384+95delinsACTGAGAAG
ENST00000696968.1:n.440+87_440+95delinsACTGAGAAG
ENST00000696969.1:n.2164+87_2164+95delinsACTGAGAAG
ENST00000458235.7:c.3207+87_3207+95delinsACTGAGAAG MANE Select	ENSP00000391676.1:n.3207+87_3207+95delinsACTGAGAAG
ENST00000458235.5:c.3207+87_3207+95delinsACTGAGAAG	ENSP00000391676.1:n.3207+87_3207+95delinsACTGAGAAG
ENST00000527031.5:n.2279-4711_2279-4703delinsACTGAGAAG
ENST00000527670.5:c.3207+87_3207+95delinsACTGAGAAG	ENSP00000432511.1:n.3207+87_3207+95delinsACTGAGAAG
ENST00000534444.1:c.*9_*17delinsACTGAGAAG	ENSP00000436421.1:n.*9_*17delinsACTGAGAAG
NM_000215.3:c.3207+87_3207+95delinsACTGAGAAG , LRG_77t1:c.3207+87_3207+95delinsACTGAGAAG	NP_000206.2:n.3207+87_3207+95delinsACTGAGAAG
XM_005259896.2:c.3336+87_3336+95delinsACTGAGAAG	XP_005259953.1:n.3336+87_3336+95delinsACTGAGAAG
XM_006722745.2:c.3207+87_3207+95delinsACTGAGAAG	XP_006722808.1:n.3207+87_3207+95delinsACTGAGAAG
XM_005259896.3:c.3336+87_3336+95delinsACTGAGAAG	XP_005259953.1:n.3336+87_3336+95delinsACTGAGAAG
NM_000215.4:c.3207+87_3207+95delinsACTGAGAAG MANE Select	NP_000206.2:n.3207+87_3207+95delinsACTGAGAAG