Canonical Allele Identifier: CA2338614813

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804004_45804007delinsAAAG , CM000681.2:g.45804004_45804007delinsAAAG	GRCh38
NC_000019.9:g.46307262_46307265delinsAAAG , CM000681.1:g.46307262_46307265delinsAAAG	GRCh37
NC_000019.8:g.50999102_50999105delinsAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+245_1653+248delinsCTTT MANE Select	ENSP00000221538.2:n.1653+245_1653+248delinsCTTT
ENST00000221538.7:c.1653+245_1653+248delinsCTTT	ENSP00000221538.2:n.1653+245_1653+248delinsCTTT
ENST00000597055.1:c.1653+245_1653+248delinsCTTT	ENSP00000472630.1:n.1653+245_1653+248delinsCTTT
ENST00000600188.5:c.861+245_861+248delinsCTTT	ENSP00000471559.1:n.861+245_861+248delinsCTTT
NM_030785.3:c.1653+245_1653+248delinsCTTT	NP_110412.1:n.1653+245_1653+248delinsCTTT
XM_011527351.1:c.1653+245_1653+248delinsCTTT	XP_011525653.1:n.1653+245_1653+248delinsCTTT
XM_011527351.2:c.1653+245_1653+248delinsCTTT	XP_011525653.1:n.1653+245_1653+248delinsCTTT
NM_030785.4:c.1653+245_1653+248delinsCTTT MANE Select	NP_110412.1:n.1653+245_1653+248delinsCTTT