Canonical Allele Identifier: CA1072524204

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414427-AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG-A
• gnomAD v4: 5-1414427-AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414430_1414500del , CM000667.2:g.1414430_1414500del	GRCh38
NC_000005.9:g.1414545_1414615del , CM000667.1:g.1414545_1414615del	GRCh37
NC_000005.8:g.1467545_1467615del	NCBI36
NG_015885.1:g.35931_36001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+193_1156+263del MANE Select	ENSP00000270349.9:n.1156+193_1156+263del
ENST00000270349.11:c.1156+193_1156+263del	ENSP00000270349.9:n.1156+193_1156+263del
NM_001044.4:c.1156+193_1156+263del	NP_001035.1:n.1156+193_1156+263del
NM_001044.5:c.1156+193_1156+263del MANE Select	NP_001035.1:n.1156+193_1156+263del