Canonical Allele Identifier: CA306141221

Gene: JAK3

Linked Data

• dbSNP Id: rs947512967
• gnomAD v2: 19-17954049-AC-A
• gnomAD v3: 19-17843240-AC-A
• gnomAD v4: 19-17843240-AC-A
• MyVariant Identifiers: chr19:g.17954050del (hg19) ; chr19:g.17843241del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843247del , CM000681.2:g.17843247del	GRCh38
NC_000019.9:g.17954056del , CM000681.1:g.17954056del	GRCh37
NC_000019.8:g.17815056del	NCBI36
NG_007273.1:g.9751del , LRG_77:g.9751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.421-69del	ENSP00000513006.1:n.421-69del
ENST00000458235.7:c.421-69del MANE Select	ENSP00000391676.1:n.421-69del
ENST00000458235.5:c.421-69del	ENSP00000391676.1:n.421-69del
ENST00000526008.5:n.521-69del
ENST00000527031.5:n.511-69del
ENST00000527670.5:c.421-69del	ENSP00000432511.1:n.421-69del
ENST00000528293.1:n.436-69del
ENST00000534444.1:c.421-69del	ENSP00000436421.1:n.421-69del
NM_000215.3:c.421-69del , LRG_77t1:c.421-69del	NP_000206.2:n.421-69del
XM_005259896.2:c.550-69del	XP_005259953.1:n.550-69del
XM_006722745.2:c.421-69del	XP_006722808.1:n.421-69del
XM_011527990.1:c.550-69del	XP_011526292.1:n.550-69del
XM_011527991.1:c.550-69del	XP_011526293.1:n.550-69del
XR_430137.2:n.560-69del
XM_005259896.3:c.550-69del	XP_005259953.1:n.550-69del
XM_011527991.2:c.550-69del	XP_011526293.1:n.550-69del
NM_000215.4:c.421-69del MANE Select	NP_000206.2:n.421-69del