Canonical Allele Identifier: CA2338615012

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804385_45804388delinsCCCT , CM000681.2:g.45804385_45804388delinsCCCT	GRCh38
NC_000019.9:g.46307643_46307646delinsCCCT , CM000681.1:g.46307643_46307646delinsCCCT	GRCh37
NC_000019.8:g.50999483_50999486delinsCCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1517_1520delinsAGGG MANE Select	ENSP00000221538.2:p.Glu506=
ENST00000221538.7:c.1517_1520delinsAGGG	ENSP00000221538.2:p.Glu506=
ENST00000597055.1:c.1517_1520delinsAGGG	ENSP00000472630.1:p.Glu506=
ENST00000600188.5:c.725_728delinsAGGG	ENSP00000471559.1:p.Glu242=
NM_030785.3:c.1517_1520delinsAGGG	NP_110412.1:p.Glu506=
XM_011527351.1:c.1517_1520delinsAGGG	XP_011525653.1:p.Glu506=
XM_011527351.2:c.1517_1520delinsAGGG	XP_011525653.1:p.Glu506=
NM_030785.4:c.1517_1520delinsAGGG MANE Select	NP_110412.1:p.Glu506=