Canonical Allele Identifier: CA2338614846

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1970507352

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804055_45804056insGT , CM000681.2:g.45804055_45804056insGT	GRCh38
NC_000019.9:g.46307313_46307314insGT , CM000681.1:g.46307313_46307314insGT	GRCh37
NC_000019.8:g.50999153_50999154insGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+196_1653+197insAC MANE Select	ENSP00000221538.2:n.1653+196_1653+197insAC
ENST00000221538.7:c.1653+196_1653+197insAC	ENSP00000221538.2:n.1653+196_1653+197insAC
ENST00000597055.1:c.1653+196_1653+197insAC	ENSP00000472630.1:n.1653+196_1653+197insAC
ENST00000600188.5:c.861+196_861+197insAC	ENSP00000471559.1:n.861+196_861+197insAC
NM_030785.3:c.1653+196_1653+197insAC	NP_110412.1:n.1653+196_1653+197insAC
XM_011527351.1:c.1653+196_1653+197insAC	XP_011525653.1:n.1653+196_1653+197insAC
XM_011527351.2:c.1653+196_1653+197insAC	XP_011525653.1:n.1653+196_1653+197insAC
NM_030785.4:c.1653+196_1653+197insAC MANE Select	NP_110412.1:n.1653+196_1653+197insAC