Canonical Allele Identifier: CA674467500

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1438763730
• gnomAD v3: 11-20628219-A-AAACCACCT
• gnomAD v4: 11-20628219-A-AAACCACCT
• MyVariant Identifiers: chr11:g.20649765_20649766insAACCACCT (hg19) ; chr11:g.20628219_20628220insAACCACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628220_20628227dup , CM000673.2:g.20628220_20628227dup	GRCh38
NC_000011.9:g.20649766_20649773dup , CM000673.1:g.20649766_20649773dup	GRCh37
NC_000011.8:g.20606342_20606349dup	NCBI36
NG_013086.1:g.33821_33828dup
NG_013086.2:g.33821_33828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+137_1499+144dup MANE Select	ENSP00000434364.2:n.1499+137_1499+144dup
ENST00000298923.11:c.*796+137_*796+144dup	ENSP00000298923.7:n.*796+137_*796+144dup
ENST00000525748.5:c.1499+137_1499+144dup	ENSP00000434364.1:n.1499+137_1499+144dup
NM_004211.3:c.1499+137_1499+144dup	NP_004202.2:n.1499+137_1499+144dup
XM_005253225.1:c.797+137_797+144dup	XP_005253282.1:n.797+137_797+144dup
XM_011520473.1:c.1499+137_1499+144dup	XP_011518775.1:n.1499+137_1499+144dup
NM_001318369.1:c.797+137_797+144dup	NP_001305298.1:n.797+137_797+144dup
NM_004211.4:c.1499+137_1499+144dup	NP_004202.3:n.1499+137_1499+144dup
XM_017018544.2:c.623+137_623+144dup	XP_016874033.1:n.623+137_623+144dup
XM_017018545.2:c.458+137_458+144dup	XP_016874034.1:n.458+137_458+144dup
NM_001318369.2:c.797+137_797+144dup	NP_001305298.1:n.797+137_797+144dup
NM_004211.5:c.1499+137_1499+144dup MANE Select	NP_004202.4:n.1499+137_1499+144dup