Canonical Allele Identifier: CA2523907609

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803993_45803994insCA , CM000681.2:g.45803993_45803994insCA	GRCh38
NC_000019.9:g.46307251_46307252insCA , CM000681.1:g.46307251_46307252insCA	GRCh37
NC_000019.8:g.50999091_50999092insCA	NCBI36

Transcript Alleles

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