Canonical Allele Identifier: CA306119323
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs924522973
MyVariant Identifiers: chr19:g.17937416_17937417insA (hg19) chr19:g.17826607_17826608insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826610dup , CM000681.2:g.17826610dup GRCh38
NC_000019.9:g.17937419dup , CM000681.1:g.17937419dup GRCh37
NC_000019.8:g.17798419dup NCBI36
NG_007273.1:g.26384dup , LRG_77:g.26384dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2067dup ENSP00000513006.1:n.*2067dup
ENST00000696967.1:n.2687dup
ENST00000696968.1:n.743dup
ENST00000696969.1:n.2467dup
ENST00000458235.7:c.*135dup MANE Select ENSP00000391676.1:n.*135dup
ENST00000458235.5:c.*135dup ENSP00000391676.1:n.*135dup
ENST00000527031.5:n.2279-1298dup
ENST00000527670.5:c.*135dup ENSP00000432511.1:n.*135dup
NM_000215.3:c.*135dup , LRG_77t1:c.*135dup NP_000206.2:n.*135dup
XM_005259896.2:c.*135dup XP_005259953.1:n.*135dup
XM_006722745.2:c.*135dup XP_006722808.1:n.*135dup
XM_005259896.3:c.*135dup XP_005259953.1:n.*135dup
NM_000215.4:c.*135dup MANE Select NP_000206.2:n.*135dup
Search 100 bp 5'
Search 100 bp 3'