Canonical Allele Identifier: CA2583426278

Gene: JAK3

Linked Data

• gnomAD v4: 19-17843299-G-GCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843302_17843306dup , CM000681.2:g.17843302_17843306dup	GRCh38
NC_000019.9:g.17954111_17954115dup , CM000681.1:g.17954111_17954115dup	GRCh37
NC_000019.8:g.17815111_17815115dup	NCBI36
NG_007273.1:g.9688_9692dup , LRG_77:g.9688_9692dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.420+76_420+80dup	ENSP00000513006.1:n.420+76_420+80dup
ENST00000458235.7:c.420+76_420+80dup MANE Select	ENSP00000391676.1:n.420+76_420+80dup
ENST00000458235.5:c.420+76_420+80dup	ENSP00000391676.1:n.420+76_420+80dup
ENST00000526008.5:n.520+76_520+80dup
ENST00000527031.5:n.510+76_510+80dup
ENST00000527670.5:c.420+76_420+80dup	ENSP00000432511.1:n.420+76_420+80dup
ENST00000528293.1:n.435+76_435+80dup
ENST00000534444.1:c.420+76_420+80dup	ENSP00000436421.1:n.420+76_420+80dup
NM_000215.3:c.420+76_420+80dup , LRG_77t1:c.420+76_420+80dup	NP_000206.2:n.420+76_420+80dup
XM_005259896.2:c.549+76_549+80dup	XP_005259953.1:n.549+76_549+80dup
XM_006722745.2:c.420+76_420+80dup	XP_006722808.1:n.420+76_420+80dup
XM_011527990.1:c.549+76_549+80dup	XP_011526292.1:n.549+76_549+80dup
XM_011527991.1:c.549+76_549+80dup	XP_011526293.1:n.549+76_549+80dup
XR_430137.2:n.559+76_559+80dup
XM_005259896.3:c.549+76_549+80dup	XP_005259953.1:n.549+76_549+80dup
XM_011527991.2:c.549+76_549+80dup	XP_011526293.1:n.549+76_549+80dup
NM_000215.4:c.420+76_420+80dup MANE Select	NP_000206.2:n.420+76_420+80dup