Canonical Allele Identifier: CA2223789815
Gene: SLC6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55656236_55656237delinsCA , CM000678.2:g.55656236_55656237delinsCA GRCh38
NC_000016.9:g.55690148_55690149delinsCA , CM000678.1:g.55690148_55690149delinsCA GRCh37
NC_000016.8:g.54247649_54247650delinsCA NCBI36
NG_016969.1:g.5607_5608delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000568943.6:c.-52+67_-52+68delinsCA MANE Select ENSP00000457473.1:n.-52+67_-52+68delinsCA...
ENST00000414754.7:c.-52+67_-52+68delinsCA ENSP00000394956.3:n.-52+67_-52+68delinsCA...
ENST00000568529.6:c.-52+67_-52+68delinsCA ENSP00000456377.2:n.-52+67_-52+68delinsCA...
ENST00000568943.5:c.-52+67_-52+68delinsCA ENSP00000457473.1:n.-52+67_-52+68delinsCA...
NM_001172501.1:c.-52+67_-52+68delinsCA NP_001165972.1:n.-52+67_-52+68delinsCA
XM_011523295.1:c.-52+67_-52+68delinsCA XP_011521597.1:n.-52+67_-52+68delinsCA
XM_011523296.1:c.-52+67_-52+68delinsCA XP_011521598.1:n.-52+67_-52+68delinsCA
XM_011523297.1:c.-52+67_-52+68delinsCA XP_011521599.1:n.-52+67_-52+68delinsCA
XM_011523298.1:c.-52+67_-52+68delinsCA XP_011521600.1:n.-52+67_-52+68delinsCA
XR_933403.1:n.566+67_566+68delinsCA
XM_011523295.2:c.-52+67_-52+68delinsCA XP_011521597.1:n.-52+67_-52+68delinsCA
XM_011523296.2:c.-52+67_-52+68delinsCA XP_011521598.1:n.-52+67_-52+68delinsCA
XM_011523297.3:c.-52+67_-52+68delinsCA XP_011521599.1:n.-52+67_-52+68delinsCA
XM_011523298.2:c.-52+67_-52+68delinsCA XP_011521600.1:n.-52+67_-52+68delinsCA
XR_933403.3:n.242+67_242+68delinsCA
NM_001172501.2:c.-52+67_-52+68delinsCA NP_001165972.1:n.-52+67_-52+68delinsCA
NM_001172501.3:c.-52+67_-52+68delinsCA MANE Select NP_001165972.1:n.-52+67_-52+68delinsCA