Canonical Allele Identifier: CA911554117

Gene: SSUH2

Linked Data

• dbSNP Id: rs1321882245
• gnomAD v3: 3-8733651-GAGCTCCAGTCTTAATTTT-G
• gnomAD v4: 3-8733651-GAGCTCCAGTCTTAATTTT-G
• MyVariant Identifiers: chr3:g.8775338_8775355del (hg19) ; chr3:g.8733652_8733669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733656_8733673del , CM000665.2:g.8733656_8733673del	GRCh38
NC_000003.11:g.8775342_8775359del , CM000665.1:g.8775342_8775359del	GRCh37
NC_000003.10:g.8750342_8750359del	NCBI36
NG_008797.2:g.4847_4864del , LRG_329:g.4847_4864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435138.5:c.64+8790_64+8807del	ENSP00000412333.1:n.64+8790_64+8807del
ENST00000478513.1:n.335+8790_335+8807del
XR_940435.1:n.330+8790_330+8807del
XM_017006530.1:c.-283+8790_-283+8807del	XP_016862019.1:n.-283+8790_-283+8807del