Canonical Allele Identifier: CA218739627
Gene: SLC6A5 HGNC NCBI

Linked Data

dbSNP Id: rs386751333

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628314_20628316delinsAT , CM000673.2:g.20628314_20628316delinsAT GRCh38
NC_000011.9:g.20649860_20649862delinsAT , CM000673.1:g.20649860_20649862delinsAT GRCh37
NC_000011.8:g.20606436_20606438delinsAT NCBI36
NG_013086.1:g.33915_33917delinsAT
NG_013086.2:g.33915_33917delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1499+231_1499+233delinsAT MANE Select ENSP00000434364.2:n.1499+231_1499+233delinsAT
ENST00000298923.11:c.*796+231_*796+233delinsAT ENSP00000298923.7:n.*796+231_*796+233delinsAT
ENST00000525748.5:c.1499+231_1499+233delinsAT ENSP00000434364.1:n.1499+231_1499+233delinsAT
NM_004211.3:c.1499+231_1499+233delinsAT NP_004202.2:n.1499+231_1499+233delinsAT
XM_005253225.1:c.797+231_797+233delinsAT XP_005253282.1:n.797+231_797+233delinsAT
XM_011520473.1:c.1499+231_1499+233delinsAT XP_011518775.1:n.1499+231_1499+233delinsAT
NM_001318369.1:c.797+231_797+233delinsAT NP_001305298.1:n.797+231_797+233delinsAT
NM_004211.4:c.1499+231_1499+233delinsAT NP_004202.3:n.1499+231_1499+233delinsAT
XM_017018544.2:c.623+231_623+233delinsAT XP_016874033.1:n.623+231_623+233delinsAT
XM_017018545.2:c.458+231_458+233delinsAT XP_016874034.1:n.458+231_458+233delinsAT
NM_001318369.2:c.797+231_797+233delinsAT NP_001305298.1:n.797+231_797+233delinsAT
NM_004211.5:c.1499+231_1499+233delinsAT MANE Select NP_004202.4:n.1499+231_1499+233delinsAT