Canonical Allele Identifier: CA2585869019

Gene: RSPH6A

Linked Data

• gnomAD v4: 19-45804397-CTAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804398_45804401del , CM000681.2:g.45804398_45804401del	GRCh38
NC_000019.9:g.46307656_46307659del , CM000681.1:g.46307656_46307659del	GRCh37
NC_000019.8:g.50999496_50999499del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1504_1507del MANE Select	ENSP00000221538.2:p.Phe502ValfsTer?
ENST00000221538.7:c.1504_1507del	ENSP00000221538.2:p.Phe502ValfsTer?
ENST00000597055.1:c.1504_1507del	ENSP00000472630.1:p.Phe502ValfsTer?
ENST00000600188.5:c.712_715del	ENSP00000471559.1:p.Phe238ValfsTer?
NM_030785.3:c.1504_1507del	NP_110412.1:p.Phe502ValfsTer?
XM_011527351.1:c.1504_1507del	XP_011525653.1:p.Phe502ValfsTer?
XM_011527351.2:c.1504_1507del	XP_011525653.1:p.Phe502ValfsTer?
NM_030785.4:c.1504_1507del MANE Select	NP_110412.1:p.Phe502ValfsTer?