Canonical Allele Identifier: CA1072524404

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414439-G-GA
• gnomAD v4: 5-1414439-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414439_1414440insA , CM000667.2:g.1414439_1414440insA	GRCh38
NC_000005.9:g.1414554_1414555insA , CM000667.1:g.1414554_1414555insA	GRCh37
NC_000005.8:g.1467554_1467555insA	NCBI36
NG_015885.1:g.35989_35990insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+251_1156+252insT MANE Select	ENSP00000270349.9:n.1156+251_1156+252insT
ENST00000270349.11:c.1156+251_1156+252insT	ENSP00000270349.9:n.1156+251_1156+252insT
NM_001044.4:c.1156+251_1156+252insT	NP_001035.1:n.1156+251_1156+252insT
NM_001044.5:c.1156+251_1156+252insT MANE Select	NP_001035.1:n.1156+251_1156+252insT