Canonical Allele Identifier: CA1118289384

Gene: SLC30A8

Linked Data

• dbSNP Id: rs1822285396
• gnomAD v3: 8-117153222-CAAATGTGTATGTGG-C
• gnomAD v4: 8-117153222-CAAATGTGTATGTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117153223_117153236del , CM000670.2:g.117153223_117153236del	GRCh38
NC_000008.10:g.118165462_118165475del , CM000670.1:g.118165462_118165475del	GRCh37
NC_000008.9:g.118234643_118234656del	NCBI36
NG_016991.1:g.207951_207964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.418+133_418+146del MANE Select	ENSP00000415011.2:n.418+133_418+146del
ENST00000427715.2:c.271+133_271+146del	ENSP00000407505.2:n.271+133_271+146del
ENST00000456015.6:c.418+133_418+146del	ENSP00000415011.2:n.418+133_418+146del
ENST00000519688.5:c.271+133_271+146del	ENSP00000431069.1:n.271+133_271+146del
ENST00000521243.5:c.271+133_271+146del	ENSP00000428545.1:n.271+133_271+146del
NM_001172811.1:c.271+133_271+146del	NP_001166282.1:n.271+133_271+146del
NM_001172813.1:c.271+133_271+146del	NP_001166284.1:n.271+133_271+146del
NM_001172814.1:c.271+133_271+146del	NP_001166285.1:n.271+133_271+146del
NM_001172815.1:c.271+133_271+146del	NP_001166286.1:n.271+133_271+146del
NM_173851.2:c.418+133_418+146del	NP_776250.2:n.418+133_418+146del
XM_011516881.1:c.418+133_418+146del	XP_011515183.1:n.418+133_418+146del
XM_011516882.1:c.271+133_271+146del	XP_011515184.1:n.271+133_271+146del
XR_928569.1:n.1020+19379_1020+19392del
XR_928570.1:n.1020+19379_1020+19392del
NM_001172815.2:c.271+133_271+146del	NP_001166286.1:n.271+133_271+146del
XM_024447083.1:c.271+133_271+146del	XP_024302851.1:n.271+133_271+146del
XR_928569.2:n.973+19379_973+19392del
XR_928570.2:n.973+19379_973+19392del
NM_001172811.2:c.271+133_271+146del	NP_001166282.1:n.271+133_271+146del
NM_001172813.2:c.271+133_271+146del	NP_001166284.1:n.271+133_271+146del
NM_001172814.2:c.271+133_271+146del	NP_001166285.1:n.271+133_271+146del
NM_173851.3:c.418+133_418+146del MANE Select	NP_776250.2:n.418+133_418+146del
NM_001172815.3:c.271+133_271+146del	NP_001166286.1:n.271+133_271+146del