Canonical Allele Identifier: CA2590929199
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414443-GCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGTGGGGGC-G
gnomAD v4: 5-1414443-GCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGTGGGGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414444_1414519del , CM000667.2:g.1414444_1414519del GRCh38
NC_000005.9:g.1414559_1414634del , CM000667.1:g.1414559_1414634del GRCh37
NC_000005.8:g.1467559_1467634del NCBI36
NG_015885.1:g.35910_35985del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+172_1156+247del MANE Select ENSP00000270349.9:n.1156+172_1156+247del
ENST00000270349.11:c.1156+172_1156+247del ENSP00000270349.9:n.1156+172_1156+247del
NM_001044.4:c.1156+172_1156+247del NP_001035.1:n.1156+172_1156+247del
NM_001044.5:c.1156+172_1156+247del MANE Select NP_001035.1:n.1156+172_1156+247del
Search 100 bp 5'
Search 100 bp 3'