Canonical Allele Identifier: CA2612827777

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20628032-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628032_20628033insTT , CM000673.2:g.20628032_20628033insTT	GRCh38
NC_000011.9:g.20649578_20649579insTT , CM000673.1:g.20649578_20649579insTT	GRCh37
NC_000011.8:g.20606154_20606155insTT	NCBI36
NG_013086.1:g.33633_33634insTT
NG_013086.2:g.33633_33634insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1448_1449insTT MANE Select	ENSP00000434364.2:p.Gly484Ter
ENST00000298923.11:c.*745_*746insTT	ENSP00000298923.7:n.*745_*746insTT
ENST00000525748.5:c.1448_1449insTT	ENSP00000434364.1:p.Gly484Ter
NM_004211.3:c.1448_1449insTT	NP_004202.2:p.Gly484Ter
XM_005253225.1:c.746_747insTT	XP_005253282.1:p.Gly250Ter
XM_011520473.1:c.1448_1449insTT	XP_011518775.1:p.Gly484Ter
NM_001318369.1:c.746_747insTT	NP_001305298.1:p.Gly250Ter
NM_004211.4:c.1448_1449insTT	NP_004202.3:p.Gly484Ter
XM_017018544.2:c.572_573insTT	XP_016874033.1:p.Gly192Ter
XM_017018545.2:c.407_408insTT	XP_016874034.1:p.Gly137Ter
NM_001318369.2:c.746_747insTT	NP_001305298.1:p.Gly250Ter
NM_004211.5:c.1448_1449insTT MANE Select	NP_004202.4:p.Gly484Ter