Canonical Allele Identifier: CA674515276

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1301095888
• gnomAD v4: 11-20617664-G-GCT
• MyVariant Identifiers: chr11:g.20639210_20639211insCT (hg19) ; chr11:g.20617664_20617665insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20617667_20617668dup , CM000673.2:g.20617667_20617668dup	GRCh38
NC_000011.9:g.20639213_20639214dup , CM000673.1:g.20639213_20639214dup	GRCh37
NC_000011.8:g.20595789_20595790dup	NCBI36
NG_013086.1:g.23268_23269dup
NG_013086.2:g.23268_23269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1128-85_1128-84dup MANE Select	ENSP00000434364.2:n.1128-85_1128-84dup
ENST00000298923.11:c.*425-85_*425-84dup	ENSP00000298923.7:n.*425-85_*425-84dup
ENST00000525748.5:c.1128-85_1128-84dup	ENSP00000434364.1:n.1128-85_1128-84dup
NM_004211.3:c.1128-85_1128-84dup	NP_004202.2:n.1128-85_1128-84dup
XM_005253225.1:c.426-85_426-84dup	XP_005253282.1:n.426-85_426-84dup
XM_011520473.1:c.1128-85_1128-84dup	XP_011518775.1:n.1128-85_1128-84dup
NM_001318369.1:c.426-85_426-84dup	NP_001305298.1:n.426-85_426-84dup
NM_004211.4:c.1128-85_1128-84dup	NP_004202.3:n.1128-85_1128-84dup
XM_017018544.2:c.252-85_252-84dup	XP_016874033.1:n.252-85_252-84dup
XM_017018545.2:c.87-85_87-84dup	XP_016874034.1:n.87-85_87-84dup
NM_001318369.2:c.426-85_426-84dup	NP_001305298.1:n.426-85_426-84dup
NM_004211.5:c.1128-85_1128-84dup MANE Select	NP_004202.4:n.1128-85_1128-84dup