Canonical Allele Identifier: CA584424057

Gene: SLC30A8

Linked Data

• dbSNP Id: rs1554590615
• gnomAD v2: 8-118163210-CCTT-C
• gnomAD v3: 8-117150971-CCTT-C
• gnomAD v4: 8-117150971-CCTT-C
• MyVariant Identifiers: chr8:g.118163211_118163213del (hg19) ; chr8:g.117150972_117150974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117150972_117150974del , CM000670.2:g.117150972_117150974del	GRCh38
NC_000008.10:g.118163211_118163213del , CM000670.1:g.118163211_118163213del	GRCh37
NC_000008.9:g.118232392_118232394del	NCBI36
NG_016991.1:g.205700_205702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.272-1972_272-1970del MANE Select	ENSP00000415011.2:n.272-1972_272-1970del
ENST00000427715.2:c.125-1972_125-1970del	ENSP00000407505.2:n.125-1972_125-1970del
ENST00000456015.6:c.272-1972_272-1970del	ENSP00000415011.2:n.272-1972_272-1970del
ENST00000518521.5:c.125-1972_125-1970del	ENSP00000485566.1:n.125-1972_125-1970del
ENST00000519688.5:c.125-1972_125-1970del	ENSP00000431069.1:n.125-1972_125-1970del
ENST00000521243.5:c.125-1972_125-1970del	ENSP00000428545.1:n.125-1972_125-1970del
ENST00000524274.5:c.125-1972_125-1970del	ENSP00000427760.1:n.125-1972_125-1970del
NM_001172811.1:c.125-1972_125-1970del	NP_001166282.1:n.125-1972_125-1970del
NM_001172813.1:c.125-1972_125-1970del	NP_001166284.1:n.125-1972_125-1970del
NM_001172814.1:c.125-1972_125-1970del	NP_001166285.1:n.125-1972_125-1970del
NM_001172815.1:c.125-1972_125-1970del	NP_001166286.1:n.125-1972_125-1970del
NM_173851.2:c.272-1972_272-1970del	NP_776250.2:n.272-1972_272-1970del
XM_011516881.1:c.272-1972_272-1970del	XP_011515183.1:n.272-1972_272-1970del
XM_011516882.1:c.125-1972_125-1970del	XP_011515184.1:n.125-1972_125-1970del
XR_928569.1:n.1020+21641_1020+21643del
XR_928570.1:n.1020+21641_1020+21643del
NM_001172815.2:c.125-1972_125-1970del	NP_001166286.1:n.125-1972_125-1970del
XM_024447083.1:c.125-1972_125-1970del	XP_024302851.1:n.125-1972_125-1970del
XR_928569.2:n.973+21641_973+21643del
XR_928570.2:n.973+21641_973+21643del
NM_001172811.2:c.125-1972_125-1970del	NP_001166282.1:n.125-1972_125-1970del
NM_001172813.2:c.125-1972_125-1970del	NP_001166284.1:n.125-1972_125-1970del
NM_001172814.2:c.125-1972_125-1970del	NP_001166285.1:n.125-1972_125-1970del
NM_173851.3:c.272-1972_272-1970del MANE Select	NP_776250.2:n.272-1972_272-1970del
NM_001172815.3:c.125-1972_125-1970del	NP_001166286.1:n.125-1972_125-1970del