Canonical Allele Identifier: CA69861697

Gene: SSUH2

Linked Data

• dbSNP Id: rs113152367
• gnomAD v2: 3-8775252-TAGG-T
• gnomAD v3: 3-8733566-TAGG-T
• gnomAD v4: 3-8733566-TAGG-T
• MyVariant Identifiers: chr3:g.8775253_8775255del (hg19) ; chr3:g.8733567_8733569del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733568_8733570del , CM000665.2:g.8733568_8733570del	GRCh38
NC_000003.11:g.8775254_8775256del , CM000665.1:g.8775254_8775256del	GRCh37
NC_000003.10:g.8750254_8750256del	NCBI36
NG_008797.2:g.4759_4761del , LRG_329:g.4759_4761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435138.5:c.64+8890_64+8892del	ENSP00000412333.1:n.64+8890_64+8892del
ENST00000478513.1:n.335+8890_335+8892del
XR_940435.1:n.330+8890_330+8892del
XM_017006530.1:c.-283+8890_-283+8892del	XP_016862019.1:n.-283+8890_-283+8892del