Canonical Allele Identifier: CA1956619726

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627983_20627984delinsTG , CM000673.2:g.20627983_20627984delinsTG	GRCh38
NC_000011.9:g.20649529_20649530delinsTG , CM000673.1:g.20649529_20649530delinsTG	GRCh37
NC_000011.8:g.20606105_20606106delinsTG	NCBI36
NG_013086.1:g.33584_33585delinsTG
NG_013086.2:g.33584_33585delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1399_1400delinsTG MANE Select	ENSP00000434364.2:p.Trp467=
ENST00000298923.11:c.*696_*697delinsTG	ENSP00000298923.7:n.*696_*697delinsTG
ENST00000525748.5:c.1399_1400delinsTG	ENSP00000434364.1:p.Trp467=
NM_004211.3:c.1399_1400delinsTG	NP_004202.2:p.Trp467=
XM_005253225.1:c.697_698delinsTG	XP_005253282.1:p.Trp233=
XM_011520473.1:c.1399_1400delinsTG	XP_011518775.1:p.Trp467=
NM_001318369.1:c.697_698delinsTG	NP_001305298.1:p.Trp233=
NM_004211.4:c.1399_1400delinsTG	NP_004202.3:p.Trp467=
XM_017018544.2:c.523_524delinsTG	XP_016874033.1:p.Trp175=
XM_017018545.2:c.358_359delinsTG	XP_016874034.1:p.Trp120=
NM_001318369.2:c.697_698delinsTG	NP_001305298.1:p.Trp233=
NM_004211.5:c.1399_1400delinsTG MANE Select	NP_004202.4:p.Trp467=