Canonical Allele Identifier: CA2583421618
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17827057-G-GACTGAGCCGAGAT
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17827057_17827058insACTGAGCCGAGAT , CM000681.2:g.17827057_17827058insACTGAGCCGAGAT GRCh38
NC_000019.9:g.17937866_17937867insACTGAGCCGAGAT , CM000681.1:g.17937866_17937867insACTGAGCCGAGAT GRCh37
NC_000019.8:g.17798866_17798867insACTGAGCCGAGAT NCBI36
NG_007273.1:g.25934_25935insATCTCGGCTCAGT , LRG_77:g.25934_25935insATCTCGGCTCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-148_*1765-147insATCTCGGCTCAGT ENSP00000513006.1:n.*1765-148_*1765-147insATCTCGGCTCAGT
ENST00000696967.1:n.2385-148_2385-147insATCTCGGCTCAGT
ENST00000696968.1:n.441-148_441-147insATCTCGGCTCAGT
ENST00000696969.1:n.2165-148_2165-147insATCTCGGCTCAGT
ENST00000458235.7:c.3208-148_3208-147insATCTCGGCTCAGT MANE Select ENSP00000391676.1:n.3208-148_3208-147insATCTCGGCTCAGT
ENST00000458235.5:c.3208-148_3208-147insATCTCGGCTCAGT ENSP00000391676.1:n.3208-148_3208-147insATCTCGGCTCAGT
ENST00000527031.5:n.2279-1748_2279-1747insATCTCGGCTCAGT
ENST00000527670.5:c.3208-148_3208-147insATCTCGGCTCAGT ENSP00000432511.1:n.3208-148_3208-147insATCTCGGCTCAGT
NM_000215.3:c.3208-148_3208-147insATCTCGGCTCAGT , LRG_77t1:c.3208-148_3208-147insATCTCGGCTCAGT NP_000206.2:n.3208-148_3208-147insATCTCGGCTCAGT
XM_005259896.2:c.3337-148_3337-147insATCTCGGCTCAGT XP_005259953.1:n.3337-148_3337-147insATCTCGGCTCAGT
XM_006722745.2:c.3208-148_3208-147insATCTCGGCTCAGT XP_006722808.1:n.3208-148_3208-147insATCTCGGCTCAGT
XM_005259896.3:c.3337-148_3337-147insATCTCGGCTCAGT XP_005259953.1:n.3337-148_3337-147insATCTCGGCTCAGT
NM_000215.4:c.3208-148_3208-147insATCTCGGCTCAGT MANE Select NP_000206.2:n.3208-148_3208-147insATCTCGGCTCAGT
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