Canonical Allele Identifier: CA1956619898
Gene: SLC6A5 HGNC NCBI

Linked Data

dbSNP Id: rs1853043158

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628349_20628350del , CM000673.2:g.20628349_20628350del GRCh38
NC_000011.9:g.20649895_20649896del , CM000673.1:g.20649895_20649896del GRCh37
NC_000011.8:g.20606471_20606472del NCBI36
NG_013086.1:g.33950_33951del
NG_013086.2:g.33950_33951del

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1499+266_1499+267del MANE Select ENSP00000434364.2:n.1499+266_1499+267del
ENST00000298923.11:c.*796+266_*796+267del ENSP00000298923.7:n.*796+266_*796+267del
ENST00000525748.5:c.1499+266_1499+267del ENSP00000434364.1:n.1499+266_1499+267del
NM_004211.3:c.1499+266_1499+267del NP_004202.2:n.1499+266_1499+267del
XM_005253225.1:c.797+266_797+267del XP_005253282.1:n.797+266_797+267del
XM_011520473.1:c.1499+266_1499+267del XP_011518775.1:n.1499+266_1499+267del
NM_001318369.1:c.797+266_797+267del NP_001305298.1:n.797+266_797+267del
NM_004211.4:c.1499+266_1499+267del NP_004202.3:n.1499+266_1499+267del
XM_017018544.2:c.623+266_623+267del XP_016874033.1:n.623+266_623+267del
XM_017018545.2:c.458+266_458+267del XP_016874034.1:n.458+266_458+267del
NM_001318369.2:c.797+266_797+267del NP_001305298.1:n.797+266_797+267del
NM_004211.5:c.1499+266_1499+267del MANE Select NP_004202.4:n.1499+266_1499+267del