Canonical Allele Identifier: CA2338614831

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1970506992

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804035_45804039del , CM000681.2:g.45804035_45804039del	GRCh38
NC_000019.9:g.46307293_46307297del , CM000681.1:g.46307293_46307297del	GRCh37
NC_000019.8:g.50999133_50999137del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+215_1653+219del MANE Select	ENSP00000221538.2:n.1653+215_1653+219del
ENST00000221538.7:c.1653+215_1653+219del	ENSP00000221538.2:n.1653+215_1653+219del
ENST00000597055.1:c.1653+215_1653+219del	ENSP00000472630.1:n.1653+215_1653+219del
ENST00000600188.5:c.861+215_861+219del	ENSP00000471559.1:n.861+215_861+219del
NM_030785.3:c.1653+215_1653+219del	NP_110412.1:n.1653+215_1653+219del
XM_011527351.1:c.1653+215_1653+219del	XP_011525653.1:n.1653+215_1653+219del
XM_011527351.2:c.1653+215_1653+219del	XP_011525653.1:n.1653+215_1653+219del
NM_030785.4:c.1653+215_1653+219del MANE Select	NP_110412.1:n.1653+215_1653+219del