Canonical Allele Identifier: CA1072527200

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414502-AAGGCGCTGGGTGGGGGC-A
• gnomAD v4: 5-1414502-AAGGCGCTGGGTGGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414506_1414522del , CM000667.2:g.1414506_1414522del	GRCh38
NC_000005.9:g.1414621_1414637del , CM000667.1:g.1414621_1414637del	GRCh37
NC_000005.8:g.1467621_1467637del	NCBI36
NG_015885.1:g.35910_35926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+172_1156+188del MANE Select	ENSP00000270349.9:n.1156+172_1156+188del
ENST00000270349.11:c.1156+172_1156+188del	ENSP00000270349.9:n.1156+172_1156+188del
NM_001044.4:c.1156+172_1156+188del	NP_001035.1:n.1156+172_1156+188del
NM_001044.5:c.1156+172_1156+188del MANE Select	NP_001035.1:n.1156+172_1156+188del