Canonical Allele Identifier: CA1072524281

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414431-A-AGGGGCAGGGCGGGGAAGGCG
• gnomAD v4: 5-1414431-A-AGGGGCAGGGCGGGGAAGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414431_1414432insGGGGCAGGGCGGGGAAGGCG , CM000667.2:g.1414431_1414432insGGGGCAGGGCGGGGAAGGCG	GRCh38
NC_000005.9:g.1414546_1414547insGGGGCAGGGCGGGGAAGGCG , CM000667.1:g.1414546_1414547insGGGGCAGGGCGGGGAAGGCG	GRCh37
NC_000005.8:g.1467546_1467547insGGGGCAGGGCGGGGAAGGCG	NCBI36
NG_015885.1:g.35997_35998insCGCCTTCCCCGCCCTGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCC MANE Select	ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCC
ENST00000270349.11:c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCC	ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCC
NM_001044.4:c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCC	NP_001035.1:n.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCC
NM_001044.5:c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCC MANE Select	NP_001035.1:n.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCC