Canonical Allele Identifier: CA1072521872
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414382-CA-C
gnomAD v4: 5-1414382-CA-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414383del , CM000667.2:g.1414383del GRCh38
NC_000005.9:g.1414498del , CM000667.1:g.1414498del GRCh37
NC_000005.8:g.1467498del NCBI36
NG_015885.1:g.36046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+308del MANE Select ENSP00000270349.9:n.1156+308del
ENST00000270349.11:c.1156+308del ENSP00000270349.9:n.1156+308del
NM_001044.4:c.1156+308del NP_001035.1:n.1156+308del
NM_001044.5:c.1156+308del MANE Select NP_001035.1:n.1156+308del