Canonical Allele Identifier: CA2576717011
Gene: JAK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826977_17826982del , CM000681.2:g.17826977_17826982del GRCh38
NC_000019.9:g.17937786_17937791del , CM000681.1:g.17937786_17937791del GRCh37
NC_000019.8:g.17798786_17798791del NCBI36
NG_007273.1:g.26010_26015del , LRG_77:g.26010_26015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-72_*1765-67del ENSP00000513006.1:n.*1765-72_*1765-67del
ENST00000696967.1:n.2385-72_2385-67del
ENST00000696968.1:n.441-72_441-67del
ENST00000696969.1:n.2165-72_2165-67del
ENST00000458235.7:c.3208-72_3208-67del MANE Select ENSP00000391676.1:n.3208-72_3208-67del
ENST00000458235.5:c.3208-72_3208-67del ENSP00000391676.1:n.3208-72_3208-67del
ENST00000527031.5:n.2279-1672_2279-1667del
ENST00000527670.5:c.3208-72_3208-67del ENSP00000432511.1:n.3208-72_3208-67del
NM_000215.3:c.3208-72_3208-67del , LRG_77t1:c.3208-72_3208-67del NP_000206.2:n.3208-72_3208-67del
XM_005259896.2:c.3337-72_3337-67del XP_005259953.1:n.3337-72_3337-67del
XM_006722745.2:c.3208-72_3208-67del XP_006722808.1:n.3208-72_3208-67del
XM_005259896.3:c.3337-72_3337-67del XP_005259953.1:n.3337-72_3337-67del
NM_000215.4:c.3208-72_3208-67del MANE Select NP_000206.2:n.3208-72_3208-67del
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