Canonical Allele Identifier: CA597487311

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1171319610
• gnomAD v2: 11-20649518-C-CT
• gnomAD v4: 11-20627972-C-CT
• MyVariant Identifiers: chr11:g.20649518_20649519insT (hg19) ; chr11:g.20627972_20627973insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627972_20627973insT , CM000673.2:g.20627972_20627973insT	GRCh38
NC_000011.9:g.20649518_20649519insT , CM000673.1:g.20649518_20649519insT	GRCh37
NC_000011.8:g.20606094_20606095insT	NCBI36
NG_013086.1:g.33573_33574insT
NG_013086.2:g.33573_33574insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1396-8_1396-7insT MANE Select	ENSP00000434364.2:n.1396-8_1396-7insT
ENST00000298923.11:c.*693-8_*693-7insT	ENSP00000298923.7:n.*693-8_*693-7insT
ENST00000525748.5:c.1396-8_1396-7insT	ENSP00000434364.1:n.1396-8_1396-7insT
NM_004211.3:c.1396-8_1396-7insT	NP_004202.2:n.1396-8_1396-7insT
XM_005253225.1:c.694-8_694-7insT	XP_005253282.1:n.694-8_694-7insT
XM_011520473.1:c.1396-8_1396-7insT	XP_011518775.1:n.1396-8_1396-7insT
NM_001318369.1:c.694-8_694-7insT	NP_001305298.1:n.694-8_694-7insT
NM_004211.4:c.1396-8_1396-7insT	NP_004202.3:n.1396-8_1396-7insT
XM_017018544.2:c.520-8_520-7insT	XP_016874033.1:n.520-8_520-7insT
XM_017018545.2:c.355-8_355-7insT	XP_016874034.1:n.355-8_355-7insT
NM_001318369.2:c.694-8_694-7insT	NP_001305298.1:n.694-8_694-7insT
NM_004211.5:c.1396-8_1396-7insT MANE Select	NP_004202.4:n.1396-8_1396-7insT