Canonical Allele Identifier: CA2688339116

Gene: SLC30A8

Linked Data

• gnomAD v4: 8-117152998-TTGACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117153004_117153008del , CM000670.2:g.117153004_117153008del	GRCh38
NC_000008.10:g.118165243_118165247del , CM000670.1:g.118165243_118165247del	GRCh37
NC_000008.9:g.118234424_118234428del	NCBI36
NG_016991.1:g.207732_207736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.332_336del MANE Select	ENSP00000415011.2:p.Leu111GlnfsTer18
ENST00000427715.2:c.185_189del	ENSP00000407505.2:p.Leu62GlnfsTer18
ENST00000456015.6:c.332_336del	ENSP00000415011.2:p.Leu111GlnfsTer18
ENST00000519688.5:c.185_189del	ENSP00000431069.1:p.Leu62GlnfsTer18
ENST00000521243.5:c.185_189del	ENSP00000428545.1:p.Leu62GlnfsTer18
ENST00000524274.5:c.185_189del	ENSP00000427760.1:p.Leu62GlnfsTer18
NM_001172811.1:c.185_189del	NP_001166282.1:p.Leu62GlnfsTer18
NM_001172813.1:c.185_189del	NP_001166284.1:p.Leu62GlnfsTer18
NM_001172814.1:c.185_189del	NP_001166285.1:p.Leu62GlnfsTer18
NM_001172815.1:c.185_189del	NP_001166286.1:p.Leu62GlnfsTer18
NM_173851.2:c.332_336del	NP_776250.2:p.Leu111GlnfsTer18
XM_011516881.1:c.332_336del	XP_011515183.1:p.Leu111GlnfsTer18
XM_011516882.1:c.185_189del	XP_011515184.1:p.Leu62GlnfsTer18
XR_928569.1:n.1020+19612_1020+19616del
XR_928570.1:n.1020+19612_1020+19616del
NM_001172815.2:c.185_189del	NP_001166286.1:p.Leu62GlnfsTer18
XM_024447083.1:c.185_189del	XP_024302851.1:p.Leu62GlnfsTer18
XR_928569.2:n.973+19612_973+19616del
XR_928570.2:n.973+19612_973+19616del
NM_001172811.2:c.185_189del	NP_001166282.1:p.Leu62GlnfsTer18
NM_001172813.2:c.185_189del	NP_001166284.1:p.Leu62GlnfsTer18
NM_001172814.2:c.185_189del	NP_001166285.1:p.Leu62GlnfsTer18
NM_173851.3:c.332_336del MANE Select	NP_776250.2:p.Leu111GlnfsTer18
NM_001172815.3:c.185_189del	NP_001166286.1:p.Leu62GlnfsTer18