Canonical Allele Identifier: CA1072522458
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414407-CT-C
gnomAD v4: 5-1414407-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414408del , CM000667.2:g.1414408del GRCh38
NC_000005.9:g.1414523del , CM000667.1:g.1414523del GRCh37
NC_000005.8:g.1467523del NCBI36
NG_015885.1:g.36021del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+283del MANE Select ENSP00000270349.9:n.1156+283del
ENST00000270349.11:c.1156+283del ENSP00000270349.9:n.1156+283del
NM_001044.4:c.1156+283del NP_001035.1:n.1156+283del
NM_001044.5:c.1156+283del MANE Select NP_001035.1:n.1156+283del