Canonical Allele Identifier: CA308997077

Gene: RSPH6A

Linked Data

• dbSNP Id: rs923636650
• gnomAD v4: 19-45804385-CCCT-C
• MyVariant Identifiers: chr19:g.46307644_46307646del (hg19) ; chr19:g.45804386_45804388del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804393_45804395del , CM000681.2:g.45804393_45804395del	GRCh38
NC_000019.9:g.46307651_46307653del , CM000681.1:g.46307651_46307653del	GRCh37
NC_000019.8:g.50999491_50999493del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1517_1519del MANE Select	ENSP00000221538.2:p.Glu506del
ENST00000221538.7:c.1517_1519del	ENSP00000221538.2:p.Glu506del
ENST00000597055.1:c.1517_1519del	ENSP00000472630.1:p.Glu506del
ENST00000600188.5:c.725_727del	ENSP00000471559.1:p.Glu242del
NM_030785.3:c.1517_1519del	NP_110412.1:p.Glu506del
XM_011527351.1:c.1517_1519del	XP_011525653.1:p.Glu506del
XM_011527351.2:c.1517_1519del	XP_011525653.1:p.Glu506del
NM_030785.4:c.1517_1519del MANE Select	NP_110412.1:p.Glu506del