Canonical Allele Identifier: CA2807126306

Gene: SLC6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55656343del , CM000678.2:g.55656343del	GRCh38
NC_000016.9:g.55690255del , CM000678.1:g.55690255del	GRCh37
NC_000016.8:g.54247756del	NCBI36
NG_016969.1:g.5714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.-352del	ENSP00000219833.8:n.-352del
ENST00000568943.6:c.-52+174del MANE Select	ENSP00000457473.1:n.-52+174del
ENST00000574918.2:c.-61del	ENSP00000460214.2:n.-61del
ENST00000682050.1:c.-61del	ENSP00000508367.1:n.-61del
ENST00000414754.7:c.-52+174del	ENSP00000394956.3:n.-52+174del
ENST00000568529.6:c.-52+174del	ENSP00000456377.2:n.-52+174del
ENST00000568655.5:c.-61del	ENSP00000454603.1:n.-61del
ENST00000568943.5:c.-52+174del	ENSP00000457473.1:n.-52+174del
NM_001172501.1:c.-52+174del	NP_001165972.1:n.-52+174del
XM_006721263.2:c.-61del	XP_006721326.1:n.-61del
XM_011523295.1:c.-52+174del	XP_011521597.1:n.-52+174del
XM_011523296.1:c.-52+174del	XP_011521598.1:n.-52+174del
XM_011523297.1:c.-52+174del	XP_011521599.1:n.-52+174del
XM_011523298.1:c.-52+174del	XP_011521600.1:n.-52+174del
XR_933403.1:n.566+174del
XM_011523295.2:c.-52+174del	XP_011521597.1:n.-52+174del
XM_011523296.2:c.-52+174del	XP_011521598.1:n.-52+174del
XM_011523297.3:c.-52+174del	XP_011521599.1:n.-52+174del
XM_011523298.2:c.-52+174del	XP_011521600.1:n.-52+174del
XR_933403.3:n.242+174del
NM_001172501.2:c.-52+174del	NP_001165972.1:n.-52+174del
NM_001172501.3:c.-52+174del MANE Select	NP_001165972.1:n.-52+174del