Canonical Allele Identifier: CA4853727

Gene: SLC30A8

Linked Data

• dbSNP Id: rs750630299
• ExAC: 8:118184786 G / GAC
• gnomAD v2: 8-118184786-G-GAC
• gnomAD v3: 8-117172547-G-GAC
• gnomAD v4: 8-117172547-G-GAC
• MyVariant Identifiers: chr8:g.118184786_118184787insAC (hg19) ; chr8:g.117172547_117172548insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117172549_117172550dup , CM000670.2:g.117172549_117172550dup	GRCh38
NC_000008.10:g.118184788_118184789dup , CM000670.1:g.118184788_118184789dup	GRCh37
NC_000008.9:g.118253969_118253970dup	NCBI36
NG_016991.1:g.227277_227278dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000456015.7:c.978_979dup MANE Select	ENSP00000415011.2:p.Ser327ThrfsTer?
ENST00000427715.2:c.831_832dup	ENSP00000407505.2:p.Ser278ThrfsTer?
ENST00000456015.6:c.978_979dup	ENSP00000415011.2:p.Ser327ThrfsTer?
ENST00000519688.5:c.831_832dup	ENSP00000431069.1:p.Ser278ThrfsTer?
ENST00000521243.5:c.831_832dup	ENSP00000428545.1:p.Ser278ThrfsTer?
NM_001172811.1:c.831_832dup	NP_001166282.1:p.Ser278ThrfsTer?
NM_001172813.1:c.831_832dup	NP_001166284.1:p.Ser278ThrfsTer?
NM_001172814.1:c.831_832dup	NP_001166285.1:p.Ser278ThrfsTer?
NM_001172815.1:c.831_832dup	NP_001166286.1:p.Ser278ThrfsTer?
NM_173851.2:c.978_979dup	NP_776250.2:p.Ser327ThrfsTer?
XM_011516881.1:c.978_979dup	XP_011515183.1:p.Ser327ThrfsTer?
XM_011516882.1:c.831_832dup	XP_011515184.1:p.Ser278ThrfsTer?
XR_928569.1:n.1020+66_1020+67dup
XR_928570.1:n.1020+66_1020+67dup
NM_001172815.2:c.831_832dup	NP_001166286.1:p.Ser278ThrfsTer?
XM_024447083.1:c.831_832dup	XP_024302851.1:p.Ser278ThrfsTer?
XR_928569.2:n.973+66_973+67dup
XR_928570.2:n.973+66_973+67dup
NM_001172811.2:c.831_832dup	NP_001166282.1:p.Ser278ThrfsTer?
NM_001172813.2:c.831_832dup	NP_001166284.1:p.Ser278ThrfsTer?
NM_001172814.2:c.831_832dup	NP_001166285.1:p.Ser278ThrfsTer?
NM_173851.3:c.978_979dup MANE Select	NP_776250.2:p.Ser327ThrfsTer?
NM_001172815.3:c.831_832dup	NP_001166286.1:p.Ser278ThrfsTer?