Canonical Allele Identifier: CA557565986

Gene: SLC6A3

Linked Data

• gnomAD v2: 5-1414501-A-AAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGG
• MyVariant Identifiers: chr5:g.1414507_1414540delinsGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG (hg19) ; chr5:g.1414392_1414425delinsGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414391_1414392insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGC , CM000667.2:g.1414391_1414392insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGC	GRCh38
NC_000005.9:g.1414506_1414507insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGC , CM000667.1:g.1414506_1414507insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGC	GRCh37
NC_000005.8:g.1467506_1467507insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGC	NCBI36
NG_015885.1:g.36042_36043insCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+304_1156+305insCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT MANE Select	ENSP00000270349.9:n.1156+304_1156+305insCCCCGCCCTGCCCCTCCCGGC...
ENST00000270349.11:c.1156+304_1156+305insCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT	ENSP00000270349.9:n.1156+304_1156+305insCCCCGCCCTGCCCCTCCCGGC...
NM_001044.4:c.1156+304_1156+305insCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT	NP_001035.1:n.1156+304_1156+305insCCCCGCCCTGCCCCTCCCGGCCCCCCA...
NM_001044.5:c.1156+304_1156+305insCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT MANE Select	NP_001035.1:n.1156+304_1156+305insCCCCGCCCTGCCCCTCCCGGCCCCCCA...