Canonical Allele Identifier: CA2585869018

Gene: RSPH6A

Linked Data

• gnomAD v4: 19-45804347-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804349del , CM000681.2:g.45804349del	GRCh38
NC_000019.9:g.46307607del , CM000681.1:g.46307607del	GRCh37
NC_000019.8:g.50999447del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1557del MANE Select	ENSP00000221538.2:p.Tyr520ThrfsTer?
ENST00000221538.7:c.1557del	ENSP00000221538.2:p.Tyr520ThrfsTer?
ENST00000597055.1:c.1557del	ENSP00000472630.1:p.Tyr520ThrfsTer?
ENST00000600188.5:c.765del	ENSP00000471559.1:p.Tyr256ThrfsTer?
NM_030785.3:c.1557del	NP_110412.1:p.Tyr520ThrfsTer?
XM_011527351.1:c.1557del	XP_011525653.1:p.Tyr520ThrfsTer?
XM_011527351.2:c.1557del	XP_011525653.1:p.Tyr520ThrfsTer?
NM_030785.4:c.1557del MANE Select	NP_110412.1:p.Tyr520ThrfsTer?