Canonical Allele Identifier: CA920072665

Gene: JAK3

Linked Data

• dbSNP Id: rs1599865420
• gnomAD v4: 19-17829705-AGCTATAATTGCACCCCAGCCTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829708_17829730del , CM000681.2:g.17829708_17829730del	GRCh38
NC_000019.9:g.17940517_17940539del , CM000681.1:g.17940517_17940539del	GRCh37
NC_000019.8:g.17801517_17801539del	NCBI36
NG_007273.1:g.23264_23286del , LRG_77:g.23264_23286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+380_*1764+402del	ENSP00000513006.1:n.*1764+380_*1764+402del
ENST00000696967.1:n.2384+380_2384+402del
ENST00000696968.1:n.440+380_440+402del
ENST00000696969.1:n.2164+380_2164+402del
ENST00000458235.7:c.3207+380_3207+402del MANE Select	ENSP00000391676.1:n.3207+380_3207+402del
ENST00000458235.5:c.3207+380_3207+402del	ENSP00000391676.1:n.3207+380_3207+402del
ENST00000527031.5:n.2279-4418_2279-4396del
ENST00000527670.5:c.3207+380_3207+402del	ENSP00000432511.1:n.3207+380_3207+402del
NM_000215.3:c.3207+380_3207+402del , LRG_77t1:c.3207+380_3207+402del	NP_000206.2:n.3207+380_3207+402del
XM_005259896.2:c.3336+380_3336+402del	XP_005259953.1:n.3336+380_3336+402del
XM_006722745.2:c.3207+380_3207+402del	XP_006722808.1:n.3207+380_3207+402del
XM_005259896.3:c.3336+380_3336+402del	XP_005259953.1:n.3336+380_3336+402del
NM_000215.4:c.3207+380_3207+402del MANE Select	NP_000206.2:n.3207+380_3207+402del