Canonical Allele Identifier: CA632136036
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1273056373
gnomAD v2: 19-17937823-CTG-C
gnomAD v3: 19-17827014-CTG-C
gnomAD v4: 19-17827014-CTG-C
MyVariant Identifiers: chr19:g.17937824_17937825del (hg19) chr19:g.17827015_17827016del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17827016_17827017del , CM000681.2:g.17827016_17827017del GRCh38
NC_000019.9:g.17937825_17937826del , CM000681.1:g.17937825_17937826del GRCh37
NC_000019.8:g.17798825_17798826del NCBI36
NG_007273.1:g.25976_25977del , LRG_77:g.25976_25977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-106_*1765-105del ENSP00000513006.1:n.*1765-106_*1765-105del
ENST00000696967.1:n.2385-106_2385-105del
ENST00000696968.1:n.441-106_441-105del
ENST00000696969.1:n.2165-106_2165-105del
ENST00000458235.7:c.3208-106_3208-105del MANE Select ENSP00000391676.1:n.3208-106_3208-105del
ENST00000458235.5:c.3208-106_3208-105del ENSP00000391676.1:n.3208-106_3208-105del
ENST00000527031.5:n.2279-1706_2279-1705del
ENST00000527670.5:c.3208-106_3208-105del ENSP00000432511.1:n.3208-106_3208-105del
NM_000215.3:c.3208-106_3208-105del , LRG_77t1:c.3208-106_3208-105del NP_000206.2:n.3208-106_3208-105del
XM_005259896.2:c.3337-106_3337-105del XP_005259953.1:n.3337-106_3337-105del
XM_006722745.2:c.3208-106_3208-105del XP_006722808.1:n.3208-106_3208-105del
XM_005259896.3:c.3337-106_3337-105del XP_005259953.1:n.3337-106_3337-105del
NM_000215.4:c.3208-106_3208-105del MANE Select NP_000206.2:n.3208-106_3208-105del
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