Canonical Allele Identifier: CA342758

Gene: SLC30A10

Linked Data

• ClinVar Variation Id: 30887
• ClinVar RCV Id: RCV000023872 ; RCV000726453
• dbSNP Id: rs281860288
• gnomAD v4: 1-219927855-TC-T
• MyVariant Identifiers: chr1:g.220101198del (hg19) ; chr1:g.219927856del (hg38)
• PubMed: PMID:11040156 ; PMID:22341972 ; PMID:22934317

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.219927860del , CM000663.2:g.219927860del	GRCh38
NC_000001.10:g.220101202del , CM000663.1:g.220101202del	GRCh37
NC_000001.9:g.218167825del	NCBI36
NG_032153.1:g.5796del
NG_032153.2:g.5796del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696608.1:c.452-751del	ENSP00000512752.1:n.452-751del
ENST00000366926.4:c.585del MANE Select	ENSP00000355893.4:p.Thr196ProfsTer17
ENST00000356609.2:c.585del	ENSP00000349018.2:p.Thr196ProfsTer17
ENST00000366926.3:c.585del	ENSP00000355893.3:p.Thr196ProfsTer17
ENST00000484239.5:n.81-751del
NM_018713.2:c.585del	NP_061183.2:p.Thr196ProfsTer17
NR_046437.1:n.796del
XM_006711437.2:c.452-751del	XP_006711500.2:n.452-751del
XM_011509727.1:c.-36+433del	XP_011508029.1:n.-36+433del
XM_006711437.4:c.452-751del	XP_006711500.2:n.452-751del
NM_001376929.1:c.452-751del	NP_001363858.1:n.452-751del
NM_018713.3:c.585del MANE Select	NP_061183.2:p.Thr196ProfsTer17
NR_046437.2:n.702del