Canonical Allele Identifier: CA2338614849

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1970507414

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804059_45804060insCTGG , CM000681.2:g.45804059_45804060insCTGG	GRCh38
NC_000019.9:g.46307317_46307318insCTGG , CM000681.1:g.46307317_46307318insCTGG	GRCh37
NC_000019.8:g.50999157_50999158insCTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000221538.8:c.1653+192_1653+193insCCAG MANE Select	ENSP00000221538.2:n.1653+192_1653+193insCCAG
ENST00000221538.7:c.1653+192_1653+193insCCAG	ENSP00000221538.2:n.1653+192_1653+193insCCAG
ENST00000597055.1:c.1653+192_1653+193insCCAG	ENSP00000472630.1:n.1653+192_1653+193insCCAG
ENST00000600188.5:c.861+192_861+193insCCAG	ENSP00000471559.1:n.861+192_861+193insCCAG
NM_030785.3:c.1653+192_1653+193insCCAG	NP_110412.1:n.1653+192_1653+193insCCAG
XM_011527351.1:c.1653+192_1653+193insCCAG	XP_011525653.1:n.1653+192_1653+193insCCAG
XM_011527351.2:c.1653+192_1653+193insCCAG	XP_011525653.1:n.1653+192_1653+193insCCAG
NM_030785.4:c.1653+192_1653+193insCCAG MANE Select	NP_110412.1:n.1653+192_1653+193insCCAG