Canonical Allele Identifier: CA1072524876
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414463-GA-G
gnomAD v4: 5-1414463-GA-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414465del , CM000667.2:g.1414465del GRCh38
NC_000005.9:g.1414580del , CM000667.1:g.1414580del GRCh37
NC_000005.8:g.1467580del NCBI36
NG_015885.1:g.35965del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+227del MANE Select ENSP00000270349.9:n.1156+227del
ENST00000270349.11:c.1156+227del ENSP00000270349.9:n.1156+227del
NM_001044.4:c.1156+227del NP_001035.1:n.1156+227del
NM_001044.5:c.1156+227del MANE Select NP_001035.1:n.1156+227del