Canonical Allele Identifier: CA2583423441

Gene: JAK3

Linked Data

• gnomAD v4: 19-17834697-GCCGGTCCTCATAAAATTGGAGTTTCTGAGGGTGAGAGGAGCAGTCGGTAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834700_17834750del , CM000681.2:g.17834700_17834750del	GRCh38
NC_000019.9:g.17945509_17945559del , CM000681.1:g.17945509_17945559del	GRCh37
NC_000019.8:g.17806509_17806559del	NCBI36
NG_007273.1:g.18244_18294del , LRG_77:g.18244_18294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*757-27_*780del
ENST00000696967.1:n.1377-27_1400del
ENST00000696970.1:n.855-27_878del
ENST00000458235.7:c.2200-27_2223del
ENST00000458235.5:c.2200-27_2223del
ENST00000527031.5:n.2278+1979_2278+2029del
ENST00000527670.5:c.2200-27_2223del
ENST00000534444.1:c.2200-27_2223del
NM_000215.3:c.2200-27_2223del , LRG_77t1:c.2200-27_2223del
XM_005259896.2:c.2329-27_2352del
XM_006722745.2:c.2200-27_2223del
XM_011527990.1:c.2329-27_2352del
XR_430137.2:n.2339-27_2362del
XM_005259896.3:c.2329-27_2352del
NM_000215.4:c.2200-27_2223del