Canonical Allele Identifier: CA557566062
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912999
gnomAD v2: 5-1414597-C-CCGGGAGGGGCAGGGCAGGGAAGGCA
gnomAD v3: 5-1414482-C-CCGGGAGGGGCAGGGCAGGGAAGGCA
gnomAD v4: 5-1414482-C-CCGGGAGGGGCAGGGCAGGGAAGGCA
MyVariant Identifiers: chr5:g.1414597_1414598insCGGGAGGGGCAGGGCAGGGAAGGCA (hg19) chr5:g.1414482_1414483insCGGGAGGGGCAGGGCAGGGAAGGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCAGGGAAGGCAC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCAGGGAAGGCAC GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCAGGGAAGGCAC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCAGGGAAGGCAC GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCAGGGAAGGCAC NCBI36
NG_015885.1:g.35946_35947insTGCCTTCCCTGCCCTGCCCCTCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+208_1156+209insTGCCTTCCCTGCCCTGCCCCTCCCG MANE Select ENSP00000270349.9:n.1156+208_1156+209insTGCCTTCCCTGCCCTGCCCCT...
ENST00000270349.11:c.1156+208_1156+209insTGCCTTCCCTGCCCTGCCCCTCCCG ENSP00000270349.9:n.1156+208_1156+209insTGCCTTCCCTGCCCTGCCCCT...
NM_001044.4:c.1156+208_1156+209insTGCCTTCCCTGCCCTGCCCCTCCCG NP_001035.1:n.1156+208_1156+209insTGCCTTCCCTGCCCTGCCCCTCCCG
NM_001044.5:c.1156+208_1156+209insTGCCTTCCCTGCCCTGCCCCTCCCG MANE Select NP_001035.1:n.1156+208_1156+209insTGCCTTCCCTGCCCTGCCCCTCCCG
Search 100 bp 5'
Search 100 bp 3'