Canonical Allele Identifier: CA1072521913

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414386-A-AAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGAGGAG
• gnomAD v4: 5-1414386-A-AAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGAGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414420_1414421insAGGAGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGG , CM000667.2:g.1414420_1414421insAGGAGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGG	GRCh38
NC_000005.9:g.1414535_1414536insAGGAGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGG , CM000667.1:g.1414535_1414536insAGGAGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGG	GRCh37
NC_000005.8:g.1467535_1467536insAGGAGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGG	NCBI36
NG_015885.1:g.36042_36043insCTCCTCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTT

Transcript Alleles

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