Canonical Allele Identifier: CA2338615027

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804425_45804433delinsCCTGCGTGG , CM000681.2:g.45804425_45804433delinsCCTGCGTGG	GRCh38
NC_000019.9:g.46307683_46307691delinsCCTGCGTGG , CM000681.1:g.46307683_46307691delinsCCTGCGTGG	GRCh37
NC_000019.8:g.50999523_50999531delinsCCTGCGTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1472_1480delinsCCACGCAGG MANE Select	ENSP00000221538.2:p.Ala491=
ENST00000221538.7:c.1472_1480delinsCCACGCAGG	ENSP00000221538.2:p.Ala491=
ENST00000597055.1:c.1472_1480delinsCCACGCAGG	ENSP00000472630.1:p.Ala491=
ENST00000600188.5:c.680_688delinsCCACGCAGG	ENSP00000471559.1:p.Ala227=
NM_030785.3:c.1472_1480delinsCCACGCAGG	NP_110412.1:p.Ala491=
XM_011527351.1:c.1472_1480delinsCCACGCAGG	XP_011525653.1:p.Ala491=
XM_011527351.2:c.1472_1480delinsCCACGCAGG	XP_011525653.1:p.Ala491=
NM_030785.4:c.1472_1480delinsCCACGCAGG MANE Select	NP_110412.1:p.Ala491=