Canonical Allele Identifier: CA2338614768

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803946_45803947delinsTC , CM000681.2:g.45803946_45803947delinsTC	GRCh38
NC_000019.9:g.46307204_46307205delinsTC , CM000681.1:g.46307204_46307205delinsTC	GRCh37
NC_000019.8:g.50999044_50999045delinsTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+305_1653+306delinsGA MANE Select	ENSP00000221538.2:n.1653+305_1653+306delinsGA
ENST00000221538.7:c.1653+305_1653+306delinsGA	ENSP00000221538.2:n.1653+305_1653+306delinsGA
ENST00000597055.1:c.1653+305_1653+306delinsGA	ENSP00000472630.1:n.1653+305_1653+306delinsGA
ENST00000600188.5:c.861+305_861+306delinsGA	ENSP00000471559.1:n.861+305_861+306delinsGA
NM_030785.3:c.1653+305_1653+306delinsGA	NP_110412.1:n.1653+305_1653+306delinsGA
XM_011527351.1:c.1653+305_1653+306delinsGA	XP_011525653.1:n.1653+305_1653+306delinsGA
XM_011527351.2:c.1653+305_1653+306delinsGA	XP_011525653.1:n.1653+305_1653+306delinsGA
NM_030785.4:c.1653+305_1653+306delinsGA MANE Select	NP_110412.1:n.1653+305_1653+306delinsGA