Canonical Allele Identifier: CA2585869022
Gene: RSPH6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804422_45804429del , CM000681.2:g.45804422_45804429del GRCh38
NC_000019.9:g.46307680_46307687del , CM000681.1:g.46307680_46307687del GRCh37
NC_000019.8:g.50999520_50999527del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1478_1485del MANE Select ENSP00000221538.2:p.Gln493ProfsTer8
ENST00000221538.7:c.1478_1485del ENSP00000221538.2:p.Gln493ProfsTer8
ENST00000597055.1:c.1478_1485del ENSP00000472630.1:p.Gln493ProfsTer8
ENST00000600188.5:c.686_693del ENSP00000471559.1:p.Gln229ProfsTer8
NM_030785.3:c.1478_1485del NP_110412.1:p.Gln493ProfsTer8
XM_011527351.1:c.1478_1485del XP_011525653.1:p.Gln493ProfsTer8
XM_011527351.2:c.1478_1485del XP_011525653.1:p.Gln493ProfsTer8
NM_030785.4:c.1478_1485del MANE Select NP_110412.1:p.Gln493ProfsTer8