Canonical Allele Identifier: CA2534496627

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803965_45803972del , CM000681.2:g.45803965_45803972del	GRCh38
NC_000019.9:g.46307223_46307230del , CM000681.1:g.46307223_46307230del	GRCh37
NC_000019.8:g.50999063_50999070del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+280_1653+287del MANE Select	ENSP00000221538.2:n.1653+280_1653+287del
ENST00000221538.7:c.1653+280_1653+287del	ENSP00000221538.2:n.1653+280_1653+287del
ENST00000597055.1:c.1653+280_1653+287del	ENSP00000472630.1:n.1653+280_1653+287del
ENST00000600188.5:c.861+280_861+287del	ENSP00000471559.1:n.861+280_861+287del
NM_030785.3:c.1653+280_1653+287del	NP_110412.1:n.1653+280_1653+287del
XM_011527351.1:c.1653+280_1653+287del	XP_011525653.1:n.1653+280_1653+287del
XM_011527351.2:c.1653+280_1653+287del	XP_011525653.1:n.1653+280_1653+287del
NM_030785.4:c.1653+280_1653+287del MANE Select	NP_110412.1:n.1653+280_1653+287del