Canonical Allele Identifier: CA846176372

Gene: SLC30A8

Linked Data

• dbSNP Id: rs1361018022
• gnomAD v3: 8-117153266-AACAG-A
• gnomAD v4: 8-117153266-AACAG-A
• MyVariant Identifiers: chr8:g.118165506_118165509del (hg19) ; chr8:g.117153267_117153270del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117153272_117153275del , CM000670.2:g.117153272_117153275del	GRCh38
NC_000008.10:g.118165511_118165514del , CM000670.1:g.118165511_118165514del	GRCh37
NC_000008.9:g.118234692_118234695del	NCBI36
NG_016991.1:g.208000_208003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.418+182_418+185del MANE Select	ENSP00000415011.2:n.418+182_418+185del
ENST00000427715.2:c.271+182_271+185del	ENSP00000407505.2:n.271+182_271+185del
ENST00000456015.6:c.418+182_418+185del	ENSP00000415011.2:n.418+182_418+185del
ENST00000519688.5:c.271+182_271+185del	ENSP00000431069.1:n.271+182_271+185del
ENST00000521243.5:c.271+182_271+185del	ENSP00000428545.1:n.271+182_271+185del
NM_001172811.1:c.271+182_271+185del	NP_001166282.1:n.271+182_271+185del
NM_001172813.1:c.271+182_271+185del	NP_001166284.1:n.271+182_271+185del
NM_001172814.1:c.271+182_271+185del	NP_001166285.1:n.271+182_271+185del
NM_001172815.1:c.271+182_271+185del	NP_001166286.1:n.271+182_271+185del
NM_173851.2:c.418+182_418+185del	NP_776250.2:n.418+182_418+185del
XM_011516881.1:c.418+182_418+185del	XP_011515183.1:n.418+182_418+185del
XM_011516882.1:c.271+182_271+185del	XP_011515184.1:n.271+182_271+185del
XR_928569.1:n.1020+19345_1020+19348del
XR_928570.1:n.1020+19345_1020+19348del
NM_001172815.2:c.271+182_271+185del	NP_001166286.1:n.271+182_271+185del
XM_024447083.1:c.271+182_271+185del	XP_024302851.1:n.271+182_271+185del
XR_928569.2:n.973+19345_973+19348del
XR_928570.2:n.973+19345_973+19348del
NM_001172811.2:c.271+182_271+185del	NP_001166282.1:n.271+182_271+185del
NM_001172813.2:c.271+182_271+185del	NP_001166284.1:n.271+182_271+185del
NM_001172814.2:c.271+182_271+185del	NP_001166285.1:n.271+182_271+185del
NM_173851.3:c.418+182_418+185del MANE Select	NP_776250.2:n.418+182_418+185del
NM_001172815.3:c.271+182_271+185del	NP_001166286.1:n.271+182_271+185del