Canonical Allele Identifier: CA557566094

Gene: SLC6A3

Linked Data

• gnomAD v2: 5-1414630-G-GGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA
• MyVariant Identifiers: chr5:g.1414630_1414631insGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA (hg19) ; chr5:g.1414515_1414516insGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG	GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG	GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG	NCBI36
NG_015885.1:g.35913_35914insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC MANE Select	ENSP00000270349.9:n.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACC...
ENST00000270349.11:c.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC	ENSP00000270349.9:n.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACC...
NM_001044.4:c.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC	NP_001035.1:n.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGC...
NM_001044.5:c.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC MANE Select	NP_001035.1:n.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGC...