Canonical Allele Identifier: CA540845432

Gene: SSUH2

Linked Data

• dbSNP Id: rs1256307288
• gnomAD v2: 3-8775383-TAG-T
• gnomAD v3: 3-8733697-TAG-T
• gnomAD v4: 3-8733697-TAG-T
• MyVariant Identifiers: chr3:g.8775384_8775385del (hg19) ; chr3:g.8733698_8733699del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733704_8733705del , CM000665.2:g.8733704_8733705del	GRCh38
NC_000003.11:g.8775390_8775391del , CM000665.1:g.8775390_8775391del	GRCh37
NC_000003.10:g.8750390_8750391del	NCBI36
NG_008797.2:g.4895_4896del , LRG_329:g.4895_4896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435138.5:c.64+8760_64+8761del	ENSP00000412333.1:n.64+8760_64+8761del
ENST00000478513.1:n.335+8760_335+8761del
XR_940435.1:n.330+8760_330+8761del
XM_017006530.1:c.-283+8760_-283+8761del	XP_016862019.1:n.-283+8760_-283+8761del