Canonical Allele Identifier: CA783868296

Gene: JAK3

Linked Data

• dbSNP Id: rs1392980461
• MyVariant Identifiers: chr19:g.17954032_17954035del (hg19) ; chr19:g.17843223_17843226del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843223_17843226del , CM000681.2:g.17843223_17843226del	GRCh38
NC_000019.9:g.17954032_17954035del , CM000681.1:g.17954032_17954035del	GRCh37
NC_000019.8:g.17815032_17815035del	NCBI36
NG_007273.1:g.9766_9769del , LRG_77:g.9766_9769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.421-54_421-51del	ENSP00000513006.1:n.421-54_421-51del
ENST00000458235.7:c.421-54_421-51del MANE Select	ENSP00000391676.1:n.421-54_421-51del
ENST00000458235.5:c.421-54_421-51del	ENSP00000391676.1:n.421-54_421-51del
ENST00000526008.5:n.521-54_521-51del
ENST00000527031.5:n.511-54_511-51del
ENST00000527670.5:c.421-54_421-51del	ENSP00000432511.1:n.421-54_421-51del
ENST00000528293.1:n.436-54_436-51del
ENST00000534444.1:c.421-54_421-51del	ENSP00000436421.1:n.421-54_421-51del
NM_000215.3:c.421-54_421-51del , LRG_77t1:c.421-54_421-51del	NP_000206.2:n.421-54_421-51del
XM_005259896.2:c.550-54_550-51del	XP_005259953.1:n.550-54_550-51del
XM_006722745.2:c.421-54_421-51del	XP_006722808.1:n.421-54_421-51del
XM_011527990.1:c.550-54_550-51del	XP_011526292.1:n.550-54_550-51del
XM_011527991.1:c.550-54_550-51del	XP_011526293.1:n.550-54_550-51del
XR_430137.2:n.560-54_560-51del
XM_005259896.3:c.550-54_550-51del	XP_005259953.1:n.550-54_550-51del
XM_011527991.2:c.550-54_550-51del	XP_011526293.1:n.550-54_550-51del
NM_000215.4:c.421-54_421-51del MANE Select	NP_000206.2:n.421-54_421-51del