Canonical Allele Identifier: CA2633289716

Gene: SLC6A2

Linked Data

• gnomAD v4: 16-55699673-G-GCTTCCCTGCAGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55699673_55699674insCTTCCCTGCAGAC , CM000678.2:g.55699673_55699674insCTTCCCTGCAGAC	GRCh38
NC_000016.9:g.55733585_55733586insCTTCCCTGCAGAC , CM000678.1:g.55733585_55733586insCTTCCCTGCAGAC	GRCh37
NC_000016.8:g.54291086_54291087insCTTCCCTGCAGAC	NCBI36
NG_016969.1:g.49044_49045insCTTCCCTGCAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.1590+19_1590+20insCTTCCCTGCAGAC	ENSP00000219833.8:n.1590+19_1590+20insCTTCCCTGCAGAC
ENST00000568943.6:c.1590+19_1590+20insCTTCCCTGCAGAC MANE Select	ENSP00000457473.1:n.1590+19_1590+20insCTTCCCTGCAGAC
ENST00000574918.2:c.1455+19_1455+20insCTTCCCTGCAGAC	ENSP00000460214.2:n.1455+19_1455+20insCTTCCCTGCAGAC
ENST00000682050.1:c.*289+19_*289+20insCTTCCCTGCAGAC	ENSP00000508367.1:n.*289+19_*289+20insCTTCCCTGCAGAC
ENST00000219833.12:c.1590+19_1590+20insCTTCCCTGCAGAC	ENSP00000219833.8:n.1590+19_1590+20insCTTCCCTGCAGAC
ENST00000379906.6:c.1590+19_1590+20insCTTCCCTGCAGAC	ENSP00000369237.2:n.1590+19_1590+20insCTTCCCTGCAGAC
ENST00000414754.7:c.1590+19_1590+20insCTTCCCTGCAGAC	ENSP00000394956.3:n.1590+19_1590+20insCTTCCCTGCAGAC
ENST00000561820.5:c.1590+19_1590+20insCTTCCCTGCAGAC	ENSP00000454439.1:n.1590+19_1590+20insCTTCCCTGCAGAC
ENST00000566163.5:c.1455+19_1455+20insCTTCCCTGCAGAC	ENSP00000456210.1:n.1455+19_1455+20insCTTCCCTGCAGAC
ENST00000567238.1:c.1275+19_1275+20insCTTCCCTGCAGAC	ENSP00000457375.1:n.1275+19_1275+20insCTTCCCTGCAGAC
ENST00000568943.5:c.1590+19_1590+20insCTTCCCTGCAGAC	ENSP00000457473.1:n.1590+19_1590+20insCTTCCCTGCAGAC
NM_001043.3:c.1590+19_1590+20insCTTCCCTGCAGAC	NP_001034.1:n.1590+19_1590+20insCTTCCCTGCAGAC
NM_001172501.1:c.1590+19_1590+20insCTTCCCTGCAGAC	NP_001165972.1:n.1590+19_1590+20insCTTCCCTGCAGAC
NM_001172502.1:c.1275+19_1275+20insCTTCCCTGCAGAC	NP_001165973.1:n.1275+19_1275+20insCTTCCCTGCAGAC
NM_001172504.1:c.1590+19_1590+20insCTTCCCTGCAGAC	NP_001165975.1:n.1590+19_1590+20insCTTCCCTGCAGAC
XM_006721263.2:c.1590+19_1590+20insCTTCCCTGCAGAC	XP_006721326.1:n.1590+19_1590+20insCTTCCCTGCAGAC
XM_011523295.1:c.1590+19_1590+20insCTTCCCTGCAGAC	XP_011521597.1:n.1590+19_1590+20insCTTCCCTGCAGAC
XM_011523296.1:c.1455+19_1455+20insCTTCCCTGCAGAC	XP_011521598.1:n.1455+19_1455+20insCTTCCCTGCAGAC
XM_011523297.1:c.1455+19_1455+20insCTTCCCTGCAGAC	XP_011521599.1:n.1455+19_1455+20insCTTCCCTGCAGAC
XM_011523299.1:c.867+19_867+20insCTTCCCTGCAGAC	XP_011521601.1:n.867+19_867+20insCTTCCCTGCAGAC
XM_011523300.1:c.867+19_867+20insCTTCCCTGCAGAC	XP_011521602.1:n.867+19_867+20insCTTCCCTGCAGAC
XR_933403.1:n.2107-466_2107-465insCTTCCCTGCAGAC
XM_011523295.2:c.1590+19_1590+20insCTTCCCTGCAGAC	XP_011521597.1:n.1590+19_1590+20insCTTCCCTGCAGAC
XM_011523296.2:c.1455+19_1455+20insCTTCCCTGCAGAC	XP_011521598.1:n.1455+19_1455+20insCTTCCCTGCAGAC
XM_011523297.3:c.1455+19_1455+20insCTTCCCTGCAGAC	XP_011521599.1:n.1455+19_1455+20insCTTCCCTGCAGAC
XM_011523299.2:c.867+19_867+20insCTTCCCTGCAGAC	XP_011521601.1:n.867+19_867+20insCTTCCCTGCAGAC
XM_011523300.2:c.867+19_867+20insCTTCCCTGCAGAC	XP_011521602.1:n.867+19_867+20insCTTCCCTGCAGAC
XR_933403.3:n.1783-466_1783-465insCTTCCCTGCAGAC
NM_001172501.2:c.1590+19_1590+20insCTTCCCTGCAGAC	NP_001165972.1:n.1590+19_1590+20insCTTCCCTGCAGAC
NM_001172501.3:c.1590+19_1590+20insCTTCCCTGCAGAC MANE Select	NP_001165972.1:n.1590+19_1590+20insCTTCCCTGCAGAC