Canonical Allele Identifier: CA1072524867

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414462-G-GAGGGGCAGGGCAGA
• gnomAD v4: 5-1414462-G-GAGGGGCAGGGCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414462_1414463insAGGGGCAGGGCAGA , CM000667.2:g.1414462_1414463insAGGGGCAGGGCAGA	GRCh38
NC_000005.9:g.1414577_1414578insAGGGGCAGGGCAGA , CM000667.1:g.1414577_1414578insAGGGGCAGGGCAGA	GRCh37
NC_000005.8:g.1467577_1467578insAGGGGCAGGGCAGA	NCBI36
NG_015885.1:g.35966_35967insTCTGCCCTGCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+228_1156+229insTCTGCCCTGCCCCT MANE Select	ENSP00000270349.9:n.1156+228_1156+229insTCTGCCCTGCCCCT
ENST00000270349.11:c.1156+228_1156+229insTCTGCCCTGCCCCT	ENSP00000270349.9:n.1156+228_1156+229insTCTGCCCTGCCCCT
NM_001044.4:c.1156+228_1156+229insTCTGCCCTGCCCCT	NP_001035.1:n.1156+228_1156+229insTCTGCCCTGCCCCT
NM_001044.5:c.1156+228_1156+229insTCTGCCCTGCCCCT MANE Select	NP_001035.1:n.1156+228_1156+229insTCTGCCCTGCCCCT