Canonical Allele Identifier: CA2961345034

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830523dup , CM000681.2:g.17830523dup	GRCh38
NC_000019.9:g.17941332dup , CM000681.1:g.17941332dup	GRCh37
NC_000019.8:g.17802332dup	NCBI36
NG_007273.1:g.22472dup , LRG_77:g.22472dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000215.4:c.3079dup MANE Select	NP_000206.2:p.Ser1027LysfsTer15
ENST00000458235.7:c.3079dup MANE Select	ENSP00000391676.1:p.Ser1027LysfsTer15
NM_000215.3:c.3079dup , LRG_77t1:c.3079dup	NP_000206.2:p.Ser1027LysfsTer15
ENST00000458235.5:c.3079dup	ENSP00000391676.1:p.Ser1027LysfsTer15
ENST00000526008.6:c.*1636dup	ENSP00000513006.1:n.*1636dup
ENST00000527031.5:n.2279-5210dup
ENST00000527670.5:c.3079dup	ENSP00000432511.1:p.Ser1027LysfsTer15
ENST00000534444.1:c.3079dup	ENSP00000436421.1:p.Ser1027LysfsTer15
ENST00000696967.1:n.2256dup
ENST00000696968.1:n.312dup
ENST00000696969.1:n.2036dup
XM_005259896.2:c.3208dup	XP_005259953.1:p.Ser1070LysfsTer15
XM_005259896.3:c.3208dup	XP_005259953.1:p.Ser1070LysfsTer15
XM_006722745.2:c.3079dup	XP_006722808.1:p.Ser1027LysfsTer15