Canonical Allele Identifier: CA2583421888

Gene: JAK3

Linked Data

• gnomAD v4: 19-17829976-GGGCCAGGATCCTCATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829981_17829996del , CM000681.2:g.17829981_17829996del	GRCh38
NC_000019.9:g.17940790_17940805del , CM000681.1:g.17940790_17940805del	GRCh37
NC_000019.8:g.17801790_17801805del	NCBI36
NG_007273.1:g.23000_23015del , LRG_77:g.23000_23015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+116_*1764+131del	ENSP00000513006.1:n.*1764+116_*1764+131del
ENST00000696967.1:n.2384+116_2384+131del
ENST00000696968.1:n.440+116_440+131del
ENST00000696969.1:n.2164+116_2164+131del
ENST00000458235.7:c.3207+116_3207+131del MANE Select	ENSP00000391676.1:n.3207+116_3207+131del
ENST00000458235.5:c.3207+116_3207+131del	ENSP00000391676.1:n.3207+116_3207+131del
ENST00000527031.5:n.2279-4682_2279-4667del
ENST00000527670.5:c.3207+116_3207+131del	ENSP00000432511.1:n.3207+116_3207+131del
ENST00000534444.1:c.*38_*53del	ENSP00000436421.1:n.*38_*53del
NM_000215.3:c.3207+116_3207+131del , LRG_77t1:c.3207+116_3207+131del	NP_000206.2:n.3207+116_3207+131del
XM_005259896.2:c.3336+116_3336+131del	XP_005259953.1:n.3336+116_3336+131del
XM_006722745.2:c.3207+116_3207+131del	XP_006722808.1:n.3207+116_3207+131del
XM_005259896.3:c.3336+116_3336+131del	XP_005259953.1:n.3336+116_3336+131del
NM_000215.4:c.3207+116_3207+131del MANE Select	NP_000206.2:n.3207+116_3207+131del