Canonical Allele Identifier: CA1072521928
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414390-GCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGA-G
gnomAD v4: 5-1414390-GCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414391_1414424del , CM000667.2:g.1414391_1414424del GRCh38
NC_000005.9:g.1414506_1414539del , CM000667.1:g.1414506_1414539del GRCh37
NC_000005.8:g.1467506_1467539del NCBI36
NG_015885.1:g.36005_36038del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+267_1156+300del MANE Select ENSP00000270349.9:n.1156+267_1156+300del
ENST00000270349.11:c.1156+267_1156+300del ENSP00000270349.9:n.1156+267_1156+300del
NM_001044.4:c.1156+267_1156+300del NP_001035.1:n.1156+267_1156+300del
NM_001044.5:c.1156+267_1156+300del MANE Select NP_001035.1:n.1156+267_1156+300del
Search 100 bp 5'
Search 100 bp 3'