Canonical Allele Identifier: CA2326051271

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830132_17830134delinsCGG , CM000681.2:g.17830132_17830134delinsCGG	GRCh38
NC_000019.9:g.17940941_17940943delinsCGG , CM000681.1:g.17940941_17940943delinsCGG	GRCh37
NC_000019.8:g.17801941_17801943delinsCGG	NCBI36
NG_007273.1:g.22858_22860delinsCCG , LRG_77:g.22858_22860delinsCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1738_*1740delinsCCG	ENSP00000513006.1:n.*1738_*1740delinsCCG
ENST00000696967.1:n.2358_2360delinsCCG
ENST00000696968.1:n.414_416delinsCCG
ENST00000696969.1:n.2138_2140delinsCCG
ENST00000458235.7:c.3181_3183delinsCCG MANE Select	ENSP00000391676.1:p.Pro1061=
ENST00000458235.5:c.3181_3183delinsCCG	ENSP00000391676.1:p.Pro1061=
ENST00000527031.5:n.2279-4824_2279-4822delinsCCG
ENST00000527670.5:c.3181_3183delinsCCG	ENSP00000432511.1:p.Pro1061=
ENST00000534444.1:c.3181_3183delinsCCG	ENSP00000436421.1:p.Pro1061=
NM_000215.3:c.3181_3183delinsCCG , LRG_77t1:c.3181_3183delinsCCG	NP_000206.2:p.Pro1061=
XM_005259896.2:c.3310_3312delinsCCG	XP_005259953.1:p.Pro1104=
XM_006722745.2:c.3181_3183delinsCCG	XP_006722808.1:p.Pro1061=
XM_005259896.3:c.3310_3312delinsCCG	XP_005259953.1:p.Pro1104=
NM_000215.4:c.3181_3183delinsCCG MANE Select	NP_000206.2:p.Pro1061=