Canonical Allele Identifier: CA184319980

Gene: SLC30A8

Linked Data

• dbSNP Id: rs748167927
• gnomAD v2: 8-118155026-CTA-C
• gnomAD v3: 8-117142787-CTA-C
• gnomAD v4: 8-117142787-CTA-C
• MyVariant Identifiers: chr8:g.118155027_118155028del (hg19) ; chr8:g.117142788_117142789del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117142792_117142793del , CM000670.2:g.117142792_117142793del	GRCh38
NC_000008.10:g.118155031_118155032del , CM000670.1:g.118155031_118155032del	GRCh37
NC_000008.9:g.118224212_118224213del	NCBI36
NG_016991.1:g.197520_197521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.72-4162_72-4161del MANE Select	ENSP00000415011.2:n.72-4162_72-4161del
ENST00000427715.2:c.-106-4027_-106-4026del	ENSP00000407505.2:n.-106-4027_-106-4026del
ENST00000456015.6:c.72-4162_72-4161del	ENSP00000415011.2:n.72-4162_72-4161del
ENST00000518396.5:c.-106-4027_-106-4026del	ENSP00000485167.1:n.-106-4027_-106-4026del
ENST00000518521.5:c.-76-4162_-76-4161del	ENSP00000485566.1:n.-76-4162_-76-4161del
ENST00000519688.5:c.-106-4027_-106-4026del	ENSP00000431069.1:n.-106-4027_-106-4026del
ENST00000520469.1:n.326-4162_326-4161del
ENST00000521035.5:n.462-4027_462-4026del
ENST00000521243.5:c.-106-4027_-106-4026del	ENSP00000428545.1:n.-106-4027_-106-4026del
ENST00000524274.5:c.-106-4027_-106-4026del	ENSP00000427760.1:n.-106-4027_-106-4026del
NM_001172811.1:c.-106-4027_-106-4026del	NP_001166282.1:n.-106-4027_-106-4026del
NM_001172813.1:c.-106-4027_-106-4026del	NP_001166284.1:n.-106-4027_-106-4026del
NM_001172814.1:c.-106-4027_-106-4026del	NP_001166285.1:n.-106-4027_-106-4026del
NM_001172815.1:c.-106-4027_-106-4026del	NP_001166286.1:n.-106-4027_-106-4026del
NM_173851.2:c.72-4162_72-4161del	NP_776250.2:n.72-4162_72-4161del
XM_011516881.1:c.72-4162_72-4161del	XP_011515183.1:n.72-4162_72-4161del
XR_928569.1:n.1020+29826_1020+29827del
XR_928570.1:n.1021-25003_1021-25002del
NM_001172815.2:c.-106-4027_-106-4026del	NP_001166286.1:n.-106-4027_-106-4026del
XM_024447083.1:c.-106-4027_-106-4026del	XP_024302851.1:n.-106-4027_-106-4026del
XR_928569.2:n.973+29826_973+29827del
XR_928570.2:n.974-25003_974-25002del
NM_001172811.2:c.-106-4027_-106-4026del	NP_001166282.1:n.-106-4027_-106-4026del
NM_001172813.2:c.-106-4027_-106-4026del	NP_001166284.1:n.-106-4027_-106-4026del
NM_001172814.2:c.-106-4027_-106-4026del	NP_001166285.1:n.-106-4027_-106-4026del
NM_173851.3:c.72-4162_72-4161del MANE Select	NP_776250.2:n.72-4162_72-4161del
NM_001172815.3:c.-106-4027_-106-4026del	NP_001166286.1:n.-106-4027_-106-4026del