Canonical Allele Identifier: CA846176370

Gene: SLC30A8

Linked Data

• dbSNP Id: rs1448789770
• gnomAD v3: 8-117153265-TAACA-T
• gnomAD v4: 8-117153265-TAACA-T
• MyVariant Identifiers: chr8:g.118165505_118165508del (hg19) ; chr8:g.117153266_117153269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117153266_117153269del , CM000670.2:g.117153266_117153269del	GRCh38
NC_000008.10:g.118165505_118165508del , CM000670.1:g.118165505_118165508del	GRCh37
NC_000008.9:g.118234686_118234689del	NCBI36
NG_016991.1:g.207994_207997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.418+176_418+179del MANE Select	ENSP00000415011.2:n.418+176_418+179del
ENST00000427715.2:c.271+176_271+179del	ENSP00000407505.2:n.271+176_271+179del
ENST00000456015.6:c.418+176_418+179del	ENSP00000415011.2:n.418+176_418+179del
ENST00000519688.5:c.271+176_271+179del	ENSP00000431069.1:n.271+176_271+179del
ENST00000521243.5:c.271+176_271+179del	ENSP00000428545.1:n.271+176_271+179del
NM_001172811.1:c.271+176_271+179del	NP_001166282.1:n.271+176_271+179del
NM_001172813.1:c.271+176_271+179del	NP_001166284.1:n.271+176_271+179del
NM_001172814.1:c.271+176_271+179del	NP_001166285.1:n.271+176_271+179del
NM_001172815.1:c.271+176_271+179del	NP_001166286.1:n.271+176_271+179del
NM_173851.2:c.418+176_418+179del	NP_776250.2:n.418+176_418+179del
XM_011516881.1:c.418+176_418+179del	XP_011515183.1:n.418+176_418+179del
XM_011516882.1:c.271+176_271+179del	XP_011515184.1:n.271+176_271+179del
XR_928569.1:n.1020+19346_1020+19349del
XR_928570.1:n.1020+19346_1020+19349del
NM_001172815.2:c.271+176_271+179del	NP_001166286.1:n.271+176_271+179del
XM_024447083.1:c.271+176_271+179del	XP_024302851.1:n.271+176_271+179del
XR_928569.2:n.973+19346_973+19349del
XR_928570.2:n.973+19346_973+19349del
NM_001172811.2:c.271+176_271+179del	NP_001166282.1:n.271+176_271+179del
NM_001172813.2:c.271+176_271+179del	NP_001166284.1:n.271+176_271+179del
NM_001172814.2:c.271+176_271+179del	NP_001166285.1:n.271+176_271+179del
NM_173851.3:c.418+176_418+179del MANE Select	NP_776250.2:n.418+176_418+179del
NM_001172815.3:c.271+176_271+179del	NP_001166286.1:n.271+176_271+179del