Canonical Allele Identifier: CA2585869024

Gene: RSPH6A

Linked Data

• gnomAD v4: 19-45804462-C-CAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804465_45804468dup , CM000681.2:g.45804465_45804468dup	GRCh38
NC_000019.9:g.46307723_46307726dup , CM000681.1:g.46307723_46307726dup	GRCh37
NC_000019.8:g.50999563_50999566dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1439_1442dup MANE Select	ENSP00000221538.2:p.Arg482ProfsTer23
ENST00000221538.7:c.1439_1442dup	ENSP00000221538.2:p.Arg482ProfsTer23
ENST00000597055.1:c.1439_1442dup	ENSP00000472630.1:p.Arg482ProfsTer23
ENST00000600188.5:c.647_650dup	ENSP00000471559.1:p.Arg218ProfsTer23
NM_030785.3:c.1439_1442dup	NP_110412.1:p.Arg482ProfsTer23
XM_011527351.1:c.1439_1442dup	XP_011525653.1:p.Arg482ProfsTer23
XM_011527351.2:c.1439_1442dup	XP_011525653.1:p.Arg482ProfsTer23
NM_030785.4:c.1439_1442dup MANE Select	NP_110412.1:p.Arg482ProfsTer23