Canonical Allele Identifier: CA1072526042

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1560913014
• gnomAD v3: 5-1414484-T-TGGGTGCGGGGCCG
• gnomAD v4: 5-1414484-T-TGGGTGCGGGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414486_1414487insGTGCGGGGCCGGG , CM000667.2:g.1414486_1414487insGTGCGGGGCCGGG	GRCh38
NC_000005.9:g.1414601_1414602insGTGCGGGGCCGGG , CM000667.1:g.1414601_1414602insGTGCGGGGCCGGG	GRCh37
NC_000005.8:g.1467601_1467602insGTGCGGGGCCGGG	NCBI36
NG_015885.1:g.35944_35945insCGGCCCCGCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+206_1156+207insCGGCCCCGCACCC MANE Select	ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCGCACCC
ENST00000270349.11:c.1156+206_1156+207insCGGCCCCGCACCC	ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCGCACCC
NM_001044.4:c.1156+206_1156+207insCGGCCCCGCACCC	NP_001035.1:n.1156+206_1156+207insCGGCCCCGCACCC
NM_001044.5:c.1156+206_1156+207insCGGCCCCGCACCC MANE Select	NP_001035.1:n.1156+206_1156+207insCGGCCCCGCACCC