Canonical Allele Identifier: CA994143321

Gene: JAK3

Linked Data

• dbSNP Id: rs2094210342
• gnomAD v3: 19-17829768-AAAG-A
• gnomAD v4: 19-17829768-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829771_17829773del , CM000681.2:g.17829771_17829773del	GRCh38
NC_000019.9:g.17940580_17940582del , CM000681.1:g.17940580_17940582del	GRCh37
NC_000019.8:g.17801580_17801582del	NCBI36
NG_007273.1:g.23221_23223del , LRG_77:g.23221_23223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+337_*1764+339del	ENSP00000513006.1:n.*1764+337_*1764+339del
ENST00000696967.1:n.2384+337_2384+339del
ENST00000696968.1:n.440+337_440+339del
ENST00000696969.1:n.2164+337_2164+339del
ENST00000458235.7:c.3207+337_3207+339del MANE Select	ENSP00000391676.1:n.3207+337_3207+339del
ENST00000458235.5:c.3207+337_3207+339del	ENSP00000391676.1:n.3207+337_3207+339del
ENST00000527031.5:n.2279-4461_2279-4459del
ENST00000527670.5:c.3207+337_3207+339del	ENSP00000432511.1:n.3207+337_3207+339del
NM_000215.3:c.3207+337_3207+339del , LRG_77t1:c.3207+337_3207+339del	NP_000206.2:n.3207+337_3207+339del
XM_005259896.2:c.3336+337_3336+339del	XP_005259953.1:n.3336+337_3336+339del
XM_006722745.2:c.3207+337_3207+339del	XP_006722808.1:n.3207+337_3207+339del
XM_005259896.3:c.3336+337_3336+339del	XP_005259953.1:n.3336+337_3336+339del
NM_000215.4:c.3207+337_3207+339del MANE Select	NP_000206.2:n.3207+337_3207+339del