Canonical Allele Identifier: CA1072521910

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414404_1414405insCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGG , CM000667.2:g.1414404_1414405insCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGG	GRCh38
NC_000005.9:g.1414519_1414520insCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGG , CM000667.1:g.1414519_1414520insCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGG	GRCh37
NC_000005.8:g.1467519_1467520insCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGG	NCBI36
NG_015885.1:g.36042_36043insCCCCGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTT

Transcript Alleles

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