Canonical Allele Identifier: CA1118291399

Gene: SLC30A8

Linked Data

• dbSNP Id: rs1823507909
• gnomAD v3: 8-117173590-AAG-A
• gnomAD v4: 8-117173590-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117173593_117173594del , CM000670.2:g.117173593_117173594del	GRCh38
NC_000008.10:g.118185832_118185833del , CM000670.1:g.118185832_118185833del	GRCh37
NC_000008.9:g.118255013_118255014del	NCBI36
NG_016991.1:g.228321_228322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.*912_*913del MANE Select	ENSP00000415011.2:n.*912_*913del
ENST00000427715.2:c.*912_*913del	ENSP00000407505.2:n.*912_*913del
ENST00000456015.6:c.2022_2023del	ENSP00000415011.2:n.2022_2023del
ENST00000519688.5:c.*912_*913del	ENSP00000431069.1:n.*912_*913del
NM_001172811.1:c.*912_*913del	NP_001166282.1:n.*912_*913del
NM_001172813.1:c.*912_*913del	NP_001166284.1:n.*912_*913del
NM_001172814.1:c.*912_*913del	NP_001166285.1:n.*912_*913del
NM_001172815.1:c.*912_*913del	NP_001166286.1:n.*912_*913del
NM_173851.2:c.*912_*913del	NP_776250.2:n.*912_*913del
XM_011516881.1:c.*912_*913del	XP_011515183.1:n.*912_*913del
XM_011516882.1:c.*912_*913del	XP_011515184.1:n.*912_*913del
XR_928566.1:n.920-104_920-103del
XR_928567.1:n.513-104_513-103del
XR_928568.1:n.718-104_718-103del
XR_928569.1:n.761-104_761-103del
XR_928570.1:n.761-104_761-103del
NM_001172815.2:c.*912_*913del	NP_001166286.1:n.*912_*913del
XM_024447083.1:c.*912_*913del	XP_024302851.1:n.*912_*913del
XR_001746038.1:n.705-104_705-103del
XR_928566.2:n.863-104_863-103del
XR_928567.2:n.476-104_476-103del
XR_928568.3:n.716-104_716-103del
XR_928569.2:n.714-104_714-103del
XR_928570.2:n.714-104_714-103del
NM_001172811.2:c.*912_*913del	NP_001166282.1:n.*912_*913del
NM_001172813.2:c.*912_*913del	NP_001166284.1:n.*912_*913del
NM_001172814.2:c.*912_*913del	NP_001166285.1:n.*912_*913del
NM_173851.3:c.*912_*913del MANE Select	NP_776250.2:n.*912_*913del
NM_001172815.3:c.*912_*913del	NP_001166286.1:n.*912_*913del