Canonical Allele Identifier: CA2736077991

Gene: RSPH6A

Linked Data

• dbSNP Id: rs2146284397

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804001_45804002insC , CM000681.2:g.45804001_45804002insC	GRCh38
NC_000019.9:g.46307259_46307260insC , CM000681.1:g.46307259_46307260insC	GRCh37
NC_000019.8:g.50999099_50999100insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+250_1653+251insG MANE Select	ENSP00000221538.2:n.1653+250_1653+251insG
ENST00000221538.7:c.1653+250_1653+251insG	ENSP00000221538.2:n.1653+250_1653+251insG
ENST00000597055.1:c.1653+250_1653+251insG	ENSP00000472630.1:n.1653+250_1653+251insG
ENST00000600188.5:c.861+250_861+251insG	ENSP00000471559.1:n.861+250_861+251insG
NM_030785.3:c.1653+250_1653+251insG	NP_110412.1:n.1653+250_1653+251insG
XM_011527351.1:c.1653+250_1653+251insG	XP_011525653.1:n.1653+250_1653+251insG
XM_011527351.2:c.1653+250_1653+251insG	XP_011525653.1:n.1653+250_1653+251insG
NM_030785.4:c.1653+250_1653+251insG MANE Select	NP_110412.1:n.1653+250_1653+251insG