Canonical Allele Identifier: CA5921449

Gene: SLC6A5

Linked Data

• dbSNP Id: rs762164269
• ExAC: 11:20649529 TG / T
• gnomAD v2: 11-20649529-TG-T
• gnomAD v4: 11-20627983-TG-T
• MyVariant Identifiers: chr11:g.20649530del (hg19) ; chr11:g.20627984del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627985del , CM000673.2:g.20627985del	GRCh38
NC_000011.9:g.20649531del , CM000673.1:g.20649531del	GRCh37
NC_000011.8:g.20606107del	NCBI36
NG_013086.1:g.33586del
NG_013086.2:g.33586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1401del MANE Select	ENSP00000434364.2:p.Trp467Ter
ENST00000298923.11:c.*698del	ENSP00000298923.7:n.*698del
ENST00000525748.5:c.1401del	ENSP00000434364.1:p.Trp467Ter
NM_004211.3:c.1401del	NP_004202.2:p.Trp467Ter
XM_005253225.1:c.699del	XP_005253282.1:p.Trp233Ter
XM_011520473.1:c.1401del	XP_011518775.1:p.Trp467Ter
NM_001318369.1:c.699del	NP_001305298.1:p.Trp233Ter
NM_004211.4:c.1401del	NP_004202.3:p.Trp467Ter
XM_017018544.2:c.525del	XP_016874033.1:p.Trp175Ter
XM_017018545.2:c.360del	XP_016874034.1:p.Trp120Ter
NM_001318369.2:c.699del	NP_001305298.1:p.Trp233Ter
NM_004211.5:c.1401del MANE Select	NP_004202.4:p.Trp467Ter