Canonical Allele Identifier: CA2814566565

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804006_45804007insAAAAAAAAAAAAAAAAA , CM000681.2:g.45804006_45804007insAAAAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.46307264_46307265insAAAAAAAAAAAAAAAAA , CM000681.1:g.46307264_46307265insAAAAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.50999104_50999105insAAAAAAAAAAAAAAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+258_1653+259insTTTTTTTTTTTTTTTTT MANE Select	ENSP00000221538.2:n.1653+258_1653+259insTTTTTTTTTTTTTTTTT
ENST00000221538.7:c.1653+258_1653+259insTTTTTTTTTTTTTTTTT	ENSP00000221538.2:n.1653+258_1653+259insTTTTTTTTTTTTTTTTT
ENST00000597055.1:c.1653+258_1653+259insTTTTTTTTTTTTTTTTT	ENSP00000472630.1:n.1653+258_1653+259insTTTTTTTTTTTTTTTTT
ENST00000600188.5:c.861+258_861+259insTTTTTTTTTTTTTTTTT	ENSP00000471559.1:n.861+258_861+259insTTTTTTTTTTTTTTTTT
NM_030785.3:c.1653+258_1653+259insTTTTTTTTTTTTTTTTT	NP_110412.1:n.1653+258_1653+259insTTTTTTTTTTTTTTTTT
XM_011527351.1:c.1653+258_1653+259insTTTTTTTTTTTTTTTTT	XP_011525653.1:n.1653+258_1653+259insTTTTTTTTTTTTTTTTT
XM_011527351.2:c.1653+258_1653+259insTTTTTTTTTTTTTTTTT	XP_011525653.1:n.1653+258_1653+259insTTTTTTTTTTTTTTTTT
NM_030785.4:c.1653+258_1653+259insTTTTTTTTTTTTTTTTT MANE Select	NP_110412.1:n.1653+258_1653+259insTTTTTTTTTTTTTTTTT