Canonical Allele Identifier: CA1956619741

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628012_20628013delinsCT , CM000673.2:g.20628012_20628013delinsCT	GRCh38
NC_000011.9:g.20649558_20649559delinsCT , CM000673.1:g.20649558_20649559delinsCT	GRCh37
NC_000011.8:g.20606134_20606135delinsCT	NCBI36
NG_013086.1:g.33613_33614delinsCT
NG_013086.2:g.33613_33614delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1428_1429delinsCT MANE Select	ENSP00000434364.2:p.Phe476=
ENST00000298923.11:c.*725_*726delinsCT	ENSP00000298923.7:n.*725_*726delinsCT
ENST00000525748.5:c.1428_1429delinsCT	ENSP00000434364.1:p.Phe476=
NM_004211.3:c.1428_1429delinsCT	NP_004202.2:p.Phe476=
XM_005253225.1:c.726_727delinsCT	XP_005253282.1:p.Phe242=
XM_011520473.1:c.1428_1429delinsCT	XP_011518775.1:p.Phe476=
NM_001318369.1:c.726_727delinsCT	NP_001305298.1:p.Phe242=
NM_004211.4:c.1428_1429delinsCT	NP_004202.3:p.Phe476=
XM_017018544.2:c.552_553delinsCT	XP_016874033.1:p.Phe184=
XM_017018545.2:c.387_388delinsCT	XP_016874034.1:p.Phe129=
NM_001318369.2:c.726_727delinsCT	NP_001305298.1:p.Phe242=
NM_004211.5:c.1428_1429delinsCT MANE Select	NP_004202.4:p.Phe476=