Canonical Allele Identifier: CA2583426054

Gene: JAK3

Linked Data

• gnomAD v4: 19-17842889-TCGTGGGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17842891_17842899del , CM000681.2:g.17842891_17842899del	GRCh38
NC_000019.9:g.17953700_17953708del , CM000681.1:g.17953700_17953708del	GRCh37
NC_000019.8:g.17814700_17814708del	NCBI36
NG_007273.1:g.10094_10102del , LRG_77:g.10094_10102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.566+129_566+137del	ENSP00000513006.1:n.566+129_566+137del
ENST00000458235.7:c.566+129_566+137del MANE Select	ENSP00000391676.1:n.566+129_566+137del
ENST00000458235.5:c.566+129_566+137del	ENSP00000391676.1:n.566+129_566+137del
ENST00000526008.5:n.666+129_666+137del
ENST00000527031.5:n.656+129_656+137del
ENST00000527670.5:c.566+129_566+137del	ENSP00000432511.1:n.566+129_566+137del
ENST00000528293.1:n.710_718del
ENST00000534444.1:c.566+129_566+137del	ENSP00000436421.1:n.566+129_566+137del
NM_000215.3:c.566+129_566+137del , LRG_77t1:c.566+129_566+137del	NP_000206.2:n.566+129_566+137del
XM_005259896.2:c.695+129_695+137del	XP_005259953.1:n.695+129_695+137del
XM_006722745.2:c.566+129_566+137del	XP_006722808.1:n.566+129_566+137del
XM_011527990.1:c.695+129_695+137del	XP_011526292.1:n.695+129_695+137del
XM_011527991.1:c.695+129_695+137del	XP_011526293.1:n.695+129_695+137del
XR_430137.2:n.705+129_705+137del
XM_005259896.3:c.695+129_695+137del	XP_005259953.1:n.695+129_695+137del
XM_011527991.2:c.695+129_695+137del	XP_011526293.1:n.695+129_695+137del
NM_000215.4:c.566+129_566+137del MANE Select	NP_000206.2:n.566+129_566+137del