Canonical Allele Identifier: CA1072527032
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414498-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCA
gnomAD v4: 5-1414498-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGCGCTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGCGCTGGGTGGGGG GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGCGCTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGCGCTGGGTGGGGG GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGAAGGCGCTGGGTGGGGG NCBI36
NG_015885.1:g.35930_35931insTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+192_1156+193insTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select ENSP00000270349.9:n.1156+192_1156+193insTGCCCCTCCCGGCCCCCCACC...
ENST00000270349.11:c.1156+192_1156+193insTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC ENSP00000270349.9:n.1156+192_1156+193insTGCCCCTCCCGGCCCCCCACC...
NM_001044.4:c.1156+192_1156+193insTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC NP_001035.1:n.1156+192_1156+193insTGCCCCTCCCGGCCCCCCACCCAGCGC...
NM_001044.5:c.1156+192_1156+193insTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select NP_001035.1:n.1156+192_1156+193insTGCCCCTCCCGGCCCCCCACCCAGCGC...
Search 100 bp 5'
Search 100 bp 3'