Canonical Allele Identifier: CA308997111

Gene: RSPH6A

Linked Data

• dbSNP Id: rs989231502
• gnomAD v3: 19-45804457-GCC-G
• gnomAD v4: 19-45804457-GCC-G
• MyVariant Identifiers: chr19:g.46307716_46307717del (hg19) ; chr19:g.45804458_45804459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804459_45804460del , CM000681.2:g.45804459_45804460del	GRCh38
NC_000019.9:g.46307717_46307718del , CM000681.1:g.46307717_46307718del	GRCh37
NC_000019.8:g.50999557_50999558del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1446_1447del MANE Select	ENSP00000221538.2:p.Ala483ProfsTer20
ENST00000221538.7:c.1446_1447del	ENSP00000221538.2:p.Ala483ProfsTer20
ENST00000597055.1:c.1446_1447del	ENSP00000472630.1:p.Ala483ProfsTer20
ENST00000600188.5:c.654_655del	ENSP00000471559.1:p.Ala219ProfsTer20
NM_030785.3:c.1446_1447del	NP_110412.1:p.Ala483ProfsTer20
XM_011527351.1:c.1446_1447del	XP_011525653.1:p.Ala483ProfsTer20
XM_011527351.2:c.1446_1447del	XP_011525653.1:p.Ala483ProfsTer20
NM_030785.4:c.1446_1447del MANE Select	NP_110412.1:p.Ala483ProfsTer20