Canonical Allele Identifier: CA2585869022

Gene: RSPH6A

Linked Data

• gnomAD v4: 19-45804419-GGCTGACCT-G

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