Canonical Allele Identifier: CA306131697

Gene: JAK3

Linked Data

• ClinVar Variation Id: 1277378
• ClinVar RCV Id: RCV001692535
• dbSNP Id: rs3212757
• gnomAD v2: 19-17947790-CATAA-C
• gnomAD v3: 19-17836981-CATAA-C
• gnomAD v4: 19-17836981-CATAA-C
• MyVariant Identifiers: chr19:g.17947791_17947794del (hg19) ; chr19:g.17836982_17836985del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17836987_17836990del , CM000681.2:g.17836987_17836990del	GRCh38
NC_000019.9:g.17947796_17947799del , CM000681.1:g.17947796_17947799del	GRCh37
NC_000019.8:g.17808796_17808799del	NCBI36
NG_007273.1:g.16007_16010del , LRG_77:g.16007_16010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*343+144_*343+147del	ENSP00000513006.1:n.*343+144_*343+147del
ENST00000696967.1:n.963+144_963+147del
ENST00000696970.1:n.441+144_441+147del
ENST00000458235.7:c.1786+144_1786+147del MANE Select	ENSP00000391676.1:n.1786+144_1786+147del
ENST00000458235.5:c.1786+144_1786+147del	ENSP00000391676.1:n.1786+144_1786+147del
ENST00000527031.5:n.2020_2023del
ENST00000527670.5:c.1786+144_1786+147del	ENSP00000432511.1:n.1786+144_1786+147del
ENST00000534444.1:c.1786+144_1786+147del	ENSP00000436421.1:n.1786+144_1786+147del
NM_000215.3:c.1786+144_1786+147del , LRG_77t1:c.1786+144_1786+147del	NP_000206.2:n.1786+144_1786+147del
XM_005259896.2:c.1915+144_1915+147del	XP_005259953.1:n.1915+144_1915+147del
XM_006722745.2:c.1786+144_1786+147del	XP_006722808.1:n.1786+144_1786+147del
XM_011527990.1:c.1915+144_1915+147del	XP_011526292.1:n.1915+144_1915+147del
XM_011527991.1:c.1916-31_1916-28del	XP_011526293.1:n.1916-31_1916-28del
XR_430137.2:n.1925+144_1925+147del
XM_005259896.3:c.1915+144_1915+147del	XP_005259953.1:n.1915+144_1915+147del
XM_011527991.2:c.1916-31_1916-28del	XP_011526293.1:n.1916-31_1916-28del
NM_000215.4:c.1786+144_1786+147del MANE Select	NP_000206.2:n.1786+144_1786+147del