Canonical Allele Identifier: CA1072526863

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414497-C-CACT
• gnomAD v4: 5-1414497-C-CACT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414497_1414498insACT , CM000667.2:g.1414497_1414498insACT	GRCh38
NC_000005.9:g.1414612_1414613insACT , CM000667.1:g.1414612_1414613insACT	GRCh37
NC_000005.8:g.1467612_1467613insACT	NCBI36
NG_015885.1:g.35931_35932insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+193_1156+194insAGT MANE Select	ENSP00000270349.9:n.1156+193_1156+194insAGT
ENST00000270349.11:c.1156+193_1156+194insAGT	ENSP00000270349.9:n.1156+193_1156+194insAGT
NM_001044.4:c.1156+193_1156+194insAGT	NP_001035.1:n.1156+193_1156+194insAGT
NM_001044.5:c.1156+193_1156+194insAGT MANE Select	NP_001035.1:n.1156+193_1156+194insAGT