Canonical Allele Identifier: CA2338614816

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804011_45804012delinsAG , CM000681.2:g.45804011_45804012delinsAG	GRCh38
NC_000019.9:g.46307269_46307270delinsAG , CM000681.1:g.46307269_46307270delinsAG	GRCh37
NC_000019.8:g.50999109_50999110delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+240_1653+241delinsCT MANE Select	ENSP00000221538.2:n.1653+240_1653+241delinsCT
ENST00000221538.7:c.1653+240_1653+241delinsCT	ENSP00000221538.2:n.1653+240_1653+241delinsCT
ENST00000597055.1:c.1653+240_1653+241delinsCT	ENSP00000472630.1:n.1653+240_1653+241delinsCT
ENST00000600188.5:c.861+240_861+241delinsCT	ENSP00000471559.1:n.861+240_861+241delinsCT
NM_030785.3:c.1653+240_1653+241delinsCT	NP_110412.1:n.1653+240_1653+241delinsCT
XM_011527351.1:c.1653+240_1653+241delinsCT	XP_011525653.1:n.1653+240_1653+241delinsCT
XM_011527351.2:c.1653+240_1653+241delinsCT	XP_011525653.1:n.1653+240_1653+241delinsCT
NM_030785.4:c.1653+240_1653+241delinsCT MANE Select	NP_110412.1:n.1653+240_1653+241delinsCT