Canonical Allele Identifier: CA2820468636
Gene: XK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727880_37727881insATCTTCCT , CM000685.2:g.37727880_37727881insATCTTCCT GRCh38
NC_000023.10:g.37587133_37587134insATCTTCCT , CM000685.1:g.37587133_37587134insATCTTCCT GRCh37
NC_000023.9:g.37472072_37472073insATCTTCCT NCBI36
NG_007473.1:g.47021_47022insATCTTCCT
NG_007473.3:g.47001_47002insATCTTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.753_754insATCTTCCT MANE Select ENSP00000367879.3:p.Pro252IlefsTer19
ENST00000378616.3:c.753_754insATCTTCCT ENSP00000367879.3:p.Pro252IlefsTer19
ENST00000465127.1:c.171+301880_171+301881insATCTTCCT ENSP00000417050.1:n.171+301880_171+301881insATCTTCCT
NM_021083.2:c.753_754insATCTTCCT NP_066569.1:p.Pro252IlefsTer19
NM_021083.4:c.753_754insATCTTCCT MANE Select NP_066569.1:p.Pro252IlefsTer19
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