Canonical Allele Identifier: CA2338614750

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803924_45803927delinsTGGA , CM000681.2:g.45803924_45803927delinsTGGA	GRCh38
NC_000019.9:g.46307182_46307185delinsTGGA , CM000681.1:g.46307182_46307185delinsTGGA	GRCh37
NC_000019.8:g.50999022_50999025delinsTGGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+325_1653+328delinsTCCA MANE Select	ENSP00000221538.2:n.1653+325_1653+328delinsTCCA
ENST00000221538.7:c.1653+325_1653+328delinsTCCA	ENSP00000221538.2:n.1653+325_1653+328delinsTCCA
ENST00000597055.1:c.1653+325_1653+328delinsTCCA	ENSP00000472630.1:n.1653+325_1653+328delinsTCCA
ENST00000600188.5:c.861+325_861+328delinsTCCA	ENSP00000471559.1:n.861+325_861+328delinsTCCA
NM_030785.3:c.1653+325_1653+328delinsTCCA	NP_110412.1:n.1653+325_1653+328delinsTCCA
XM_011527351.1:c.1653+325_1653+328delinsTCCA	XP_011525653.1:n.1653+325_1653+328delinsTCCA
XM_011527351.2:c.1653+325_1653+328delinsTCCA	XP_011525653.1:n.1653+325_1653+328delinsTCCA
NM_030785.4:c.1653+325_1653+328delinsTCCA MANE Select	NP_110412.1:n.1653+325_1653+328delinsTCCA