Canonical Allele Identifier: CA404763978

Gene: JAK3

Linked Data

• MyVariant Identifiers: chr19:g.17830134_17830135del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830134_17830135del , CM000681.2:g.17830134_17830135del	GRCh38
NC_000019.9:g.17940943_17940944del , CM000681.1:g.17940943_17940944del	GRCh37
NC_000019.8:g.17801943_17801944del	NCBI36
NG_007273.1:g.22857_22858del , LRG_77:g.22857_22858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1737_*1738del	ENSP00000513006.1:n.*1737_*1738del
ENST00000696967.1:n.2357_2358del
ENST00000696968.1:n.413_414del
ENST00000696969.1:n.2137_2138del
ENST00000458235.7:c.3180_3181del MANE Select	ENSP00000391676.1:p.Pro1061GlyfsTer8
ENST00000458235.5:c.3180_3181del	ENSP00000391676.1:p.Pro1061GlyfsTer8
ENST00000527031.5:n.2279-4825_2279-4824del
ENST00000527670.5:c.3180_3181del	ENSP00000432511.1:p.Pro1061GlyfsTer8
ENST00000534444.1:c.3180_3181del	ENSP00000436421.1:p.Pro1061GlyfsTer8
NM_000215.3:c.3180_3181del , LRG_77t1:c.3180_3181del	NP_000206.2:p.Pro1061GlyfsTer8
XM_005259896.2:c.3309_3310del	XP_005259953.1:p.Pro1104GlyfsTer8
XM_006722745.2:c.3180_3181del	XP_006722808.1:p.Pro1061GlyfsTer8
XM_005259896.3:c.3309_3310del	XP_005259953.1:p.Pro1104GlyfsTer8
NM_000215.4:c.3180_3181del MANE Select	NP_000206.2:p.Pro1061GlyfsTer8