Canonical Allele Identifier: CA2585869015
Gene: RSPH6A HGNC NCBI

Linked Data

gnomAD v4: 19-45804290-CCATGGAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804291_45804297del , CM000681.2:g.45804291_45804297del GRCh38
NC_000019.9:g.46307549_46307555del , CM000681.1:g.46307549_46307555del GRCh37
NC_000019.8:g.50999389_50999395del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1608_1614del MANE Select ENSP00000221538.2:p.Asp536GlufsTer20
ENST00000221538.7:c.1608_1614del ENSP00000221538.2:p.Asp536GlufsTer20
ENST00000597055.1:c.1608_1614del ENSP00000472630.1:p.Asp536GlufsTer20
ENST00000600188.5:c.816_822del ENSP00000471559.1:p.Asp272GlufsTer20
NM_030785.3:c.1608_1614del NP_110412.1:p.Asp536GlufsTer20
XM_011527351.1:c.1608_1614del XP_011525653.1:p.Asp536GlufsTer20
XM_011527351.2:c.1608_1614del XP_011525653.1:p.Asp536GlufsTer20
NM_030785.4:c.1608_1614del MANE Select NP_110412.1:p.Asp536GlufsTer20
Search 100 bp 5'
Search 100 bp 3'