Canonical Allele Identifier: CA2695232387
Gene: XK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727813_37727814del , CM000685.2:g.37727813_37727814del GRCh38
NC_000023.10:g.37587066_37587067del , CM000685.1:g.37587066_37587067del GRCh37
NC_000023.9:g.37472005_37472006del NCBI36
NG_007473.1:g.46954_46955del
NG_007473.3:g.46934_46935del

Transcript Alleles

HGVS Amino-acid change
ENST00000378616.5:c.686_687del MANE Select ENSP00000367879.3:p.Phe229TyrfsTer?
ENST00000378616.3:c.686_687del ENSP00000367879.3:p.Phe229TyrfsTer?
ENST00000465127.1:c.171+301813_171+301814del ENSP00000417050.1:n.171+301813_171+301814del
NM_021083.2:c.686_687del NP_066569.1:p.Phe229TyrfsTer?
NM_021083.4:c.686_687del MANE Select NP_066569.1:p.Phe229TyrfsTer?