Canonical Allele Identifier: CA2580082890
Gene: SLC6A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2441905
ClinVar RCV Id: RCV003148220

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628020_20636733del , CM000673.2:g.20628020_20636733del GRCh38
NC_000011.9:g.20649566_20658279del , CM000673.1:g.20649566_20658279del GRCh37
NC_000011.8:g.20606142_20614855del NCBI36
NG_013086.1:g.33621_42334del
NG_013086.2:g.33621_42334del

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1436_1737+314del
ENST00000298923.11:c.*733_*1034+314del
ENST00000525748.5:c.1436_1737+314del
NM_004211.3:c.1436_1737+314del
XM_005253225.1:c.734_1035+314del
XM_011520473.1:c.1436_1737+314del
NM_001318369.1:c.734_1035+314del
NM_004211.4:c.1436_1737+314del
XM_017018544.2:c.560_861+314del
XM_017018545.2:c.395_696+314del
NM_001318369.2:c.734_1035+314del
NM_004211.5:c.1436_1737+314del