Canonical Allele Identifier: CA674467337

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1264541755
• gnomAD v3: 11-20628048-CTCT-C
• gnomAD v4: 11-20628048-CTCT-C
• MyVariant Identifiers: chr11:g.20649595_20649597del (hg19) ; chr11:g.20628049_20628051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628053_20628055del , CM000673.2:g.20628053_20628055del	GRCh38
NC_000011.9:g.20649599_20649601del , CM000673.1:g.20649599_20649601del	GRCh37
NC_000011.8:g.20606175_20606177del	NCBI36
NG_013086.1:g.33654_33656del
NG_013086.2:g.33654_33656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1469_1471del MANE Select	ENSP00000434364.2:p.Ser490del
ENST00000298923.11:c.*766_*768del	ENSP00000298923.7:n.*766_*768del
ENST00000525748.5:c.1469_1471del	ENSP00000434364.1:p.Ser490del
NM_004211.3:c.1469_1471del	NP_004202.2:p.Ser490del
XM_005253225.1:c.767_769del	XP_005253282.1:p.Ser256del
XM_011520473.1:c.1469_1471del	XP_011518775.1:p.Ser490del
NM_001318369.1:c.767_769del	NP_001305298.1:p.Ser256del
NM_004211.4:c.1469_1471del	NP_004202.3:p.Ser490del
XM_017018544.2:c.593_595del	XP_016874033.1:p.Ser198del
XM_017018545.2:c.428_430del	XP_016874034.1:p.Ser143del
NM_001318369.2:c.767_769del	NP_001305298.1:p.Ser256del
NM_004211.5:c.1469_1471del MANE Select	NP_004202.4:p.Ser490del