Canonical Allele Identifier: CA994140835
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v3: 19-17827063-TCC-T
gnomAD v4: 19-17827063-TCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17827064_17827065del , CM000681.2:g.17827064_17827065del GRCh38
NC_000019.9:g.17937873_17937874del , CM000681.1:g.17937873_17937874del GRCh37
NC_000019.8:g.17798873_17798874del NCBI36
NG_007273.1:g.25927_25928del , LRG_77:g.25927_25928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-155_*1765-154del ENSP00000513006.1:n.*1765-155_*1765-154del
ENST00000696967.1:n.2385-155_2385-154del
ENST00000696968.1:n.441-155_441-154del
ENST00000696969.1:n.2165-155_2165-154del
ENST00000458235.7:c.3208-155_3208-154del MANE Select ENSP00000391676.1:n.3208-155_3208-154del
ENST00000458235.5:c.3208-155_3208-154del ENSP00000391676.1:n.3208-155_3208-154del
ENST00000527031.5:n.2279-1755_2279-1754del
ENST00000527670.5:c.3208-155_3208-154del ENSP00000432511.1:n.3208-155_3208-154del
NM_000215.3:c.3208-155_3208-154del , LRG_77t1:c.3208-155_3208-154del NP_000206.2:n.3208-155_3208-154del
XM_005259896.2:c.3337-155_3337-154del XP_005259953.1:n.3337-155_3337-154del
XM_006722745.2:c.3208-155_3208-154del XP_006722808.1:n.3208-155_3208-154del
XM_005259896.3:c.3337-155_3337-154del XP_005259953.1:n.3337-155_3337-154del
NM_000215.4:c.3208-155_3208-154del MANE Select NP_000206.2:n.3208-155_3208-154del
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