Canonical Allele Identifier: CA2338614786

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803984_45803986delinsACT , CM000681.2:g.45803984_45803986delinsACT	GRCh38
NC_000019.9:g.46307242_46307244delinsACT , CM000681.1:g.46307242_46307244delinsACT	GRCh37
NC_000019.8:g.50999082_50999084delinsACT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+266_1653+268delinsAGT MANE Select	ENSP00000221538.2:n.1653+266_1653+268delinsAGT
ENST00000221538.7:c.1653+266_1653+268delinsAGT	ENSP00000221538.2:n.1653+266_1653+268delinsAGT
ENST00000597055.1:c.1653+266_1653+268delinsAGT	ENSP00000472630.1:n.1653+266_1653+268delinsAGT
ENST00000600188.5:c.861+266_861+268delinsAGT	ENSP00000471559.1:n.861+266_861+268delinsAGT
NM_030785.3:c.1653+266_1653+268delinsAGT	NP_110412.1:n.1653+266_1653+268delinsAGT
XM_011527351.1:c.1653+266_1653+268delinsAGT	XP_011525653.1:n.1653+266_1653+268delinsAGT
XM_011527351.2:c.1653+266_1653+268delinsAGT	XP_011525653.1:n.1653+266_1653+268delinsAGT
NM_030785.4:c.1653+266_1653+268delinsAGT MANE Select	NP_110412.1:n.1653+266_1653+268delinsAGT