Canonical Allele Identifier: CA1072521891
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756204315
gnomAD v3: 5-1414385-GA-G
gnomAD v4: 5-1414385-GA-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414388del , CM000667.2:g.1414388del GRCh38
NC_000005.9:g.1414503del , CM000667.1:g.1414503del GRCh37
NC_000005.8:g.1467503del NCBI36
NG_015885.1:g.36043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+305del MANE Select ENSP00000270349.9:n.1156+305del
ENST00000270349.11:c.1156+305del ENSP00000270349.9:n.1156+305del
NM_001044.4:c.1156+305del NP_001035.1:n.1156+305del
NM_001044.5:c.1156+305del MANE Select NP_001035.1:n.1156+305del