Canonical Allele Identifier: CA2735868871
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2147670181
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826991_17826998del , CM000681.2:g.17826991_17826998del GRCh38
NC_000019.9:g.17937800_17937807del , CM000681.1:g.17937800_17937807del GRCh37
NC_000019.8:g.17798800_17798807del NCBI36
NG_007273.1:g.26000_26007del , LRG_77:g.26000_26007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-82_*1765-75del ENSP00000513006.1:n.*1765-82_*1765-75del
ENST00000696967.1:n.2385-82_2385-75del
ENST00000696968.1:n.441-82_441-75del
ENST00000696969.1:n.2165-82_2165-75del
ENST00000458235.7:c.3208-82_3208-75del MANE Select ENSP00000391676.1:n.3208-82_3208-75del
ENST00000458235.5:c.3208-82_3208-75del ENSP00000391676.1:n.3208-82_3208-75del
ENST00000527031.5:n.2279-1682_2279-1675del
ENST00000527670.5:c.3208-82_3208-75del ENSP00000432511.1:n.3208-82_3208-75del
NM_000215.3:c.3208-82_3208-75del , LRG_77t1:c.3208-82_3208-75del NP_000206.2:n.3208-82_3208-75del
XM_005259896.2:c.3337-82_3337-75del XP_005259953.1:n.3337-82_3337-75del
XM_006722745.2:c.3208-82_3208-75del XP_006722808.1:n.3208-82_3208-75del
XM_005259896.3:c.3337-82_3337-75del XP_005259953.1:n.3337-82_3337-75del
NM_000215.4:c.3208-82_3208-75del MANE Select NP_000206.2:n.3208-82_3208-75del
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