Canonical Allele Identifier: CA2580615417
Gene: SLC2A10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572073
ClinVar RCV Id: RCV003313763

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46725092dup , CM000682.2:g.46725092dup GRCh38
NC_000020.10:g.45353731dup , CM000682.1:g.45353731dup GRCh37
NC_000020.9:g.44787138dup NCBI36
NG_016284.1:g.20453dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.56dup MANE Select ENSP00000352216.2:p.Leu20ProfsTer6
ENST00000359271.3:c.56dup ENSP00000352216.2:p.Leu20ProfsTer6
ENST00000611837.1:n.208dup
NM_030777.3:c.56dup NP_110404.1:p.Leu20ProfsTer6
XM_011529060.1:c.119dup XP_011527362.1:p.Leu41ProfsTer6
XM_011529061.1:c.65dup XP_011527363.1:p.Leu23ProfsTer6
XM_011529062.1:c.119dup XP_011527364.1:p.Leu41ProfsTer6
XM_011529063.1:c.119dup XP_011527365.1:p.Leu41ProfsTer6
XM_011529064.1:c.119dup XP_011527366.1:p.Leu41ProfsTer6
XM_011529065.1:c.119dup XP_011527367.1:p.Leu41ProfsTer6
XR_936641.1:n.255dup
XM_011529060.2:c.119dup XP_011527362.1:p.Leu41ProfsTer6
XM_011529061.2:c.65dup XP_011527363.1:p.Leu23ProfsTer6
XM_011529062.2:c.119dup XP_011527364.1:p.Leu41ProfsTer6
XM_011529063.2:c.119dup XP_011527365.1:p.Leu41ProfsTer6
XM_011529064.2:c.119dup XP_011527366.1:p.Leu41ProfsTer6
XM_011529065.2:c.119dup XP_011527367.1:p.Leu41ProfsTer6
XM_017028087.2:c.56dup XP_016883576.1:p.Leu20ProfsTer6
XR_936641.2:n.242dup
NM_030777.4:c.56dup MANE Select NP_110404.1:p.Leu20ProfsTer6