Canonical Allele Identifier: CA1072522597

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414408-T-TGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCG
• gnomAD v4: 5-1414408-T-TGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414421_1414422insAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGC , CM000667.2:g.1414421_1414422insAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGC	GRCh38
NC_000005.9:g.1414536_1414537insAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGC , CM000667.1:g.1414536_1414537insAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGC	GRCh37
NC_000005.8:g.1467536_1467537insAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGC	NCBI36
NG_015885.1:g.36020_36021insCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+282_1156+283insCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCC MANE Select	ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCCACCCAGTGCCT...
ENST00000270349.11:c.1156+282_1156+283insCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCC	ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCCACCCAGTGCCT...
NM_001044.4:c.1156+282_1156+283insCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCC	NP_001035.1:n.1156+282_1156+283insCGGCCCCCCCACCCAGTGCCTTTCCTG...
NM_001044.5:c.1156+282_1156+283insCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCC MANE Select	NP_001035.1:n.1156+282_1156+283insCGGCCCCCCCACCCAGTGCCTTTCCTG...