Canonical Allele Identifier: CA783873504

Gene: JAK3

Linked Data

• dbSNP Id: rs1409750459
• MyVariant Identifiers: chr19:g.17940823_17940830del (hg19) ; chr19:g.17830014_17830021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830014_17830021del , CM000681.2:g.17830014_17830021del	GRCh38
NC_000019.9:g.17940823_17940830del , CM000681.1:g.17940823_17940830del	GRCh37
NC_000019.8:g.17801823_17801830del	NCBI36
NG_007273.1:g.22971_22978del , LRG_77:g.22971_22978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+87_*1764+94del	ENSP00000513006.1:n.*1764+87_*1764+94del
ENST00000696967.1:n.2384+87_2384+94del
ENST00000696968.1:n.440+87_440+94del
ENST00000696969.1:n.2164+87_2164+94del
ENST00000458235.7:c.3207+87_3207+94del MANE Select	ENSP00000391676.1:n.3207+87_3207+94del
ENST00000458235.5:c.3207+87_3207+94del	ENSP00000391676.1:n.3207+87_3207+94del
ENST00000527031.5:n.2279-4711_2279-4704del
ENST00000527670.5:c.3207+87_3207+94del	ENSP00000432511.1:n.3207+87_3207+94del
ENST00000534444.1:c.*9_*16del	ENSP00000436421.1:n.*9_*16del
NM_000215.3:c.3207+87_3207+94del , LRG_77t1:c.3207+87_3207+94del	NP_000206.2:n.3207+87_3207+94del
XM_005259896.2:c.3336+87_3336+94del	XP_005259953.1:n.3336+87_3336+94del
XM_006722745.2:c.3207+87_3207+94del	XP_006722808.1:n.3207+87_3207+94del
XM_005259896.3:c.3336+87_3336+94del	XP_005259953.1:n.3336+87_3336+94del
NM_000215.4:c.3207+87_3207+94del MANE Select	NP_000206.2:n.3207+87_3207+94del