Canonical Allele Identifier: CA1072521862

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414378-AAGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAG-A
• gnomAD v4: 5-1414378-AAGGCAGGAAAGGCACTGGGTGGGGGGGCCTGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414379_1414412del , CM000667.2:g.1414379_1414412del	GRCh38
NC_000005.9:g.1414494_1414527del , CM000667.1:g.1414494_1414527del	GRCh37
NC_000005.8:g.1467494_1467527del	NCBI36
NG_015885.1:g.36017_36050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+279_1156+312del MANE Select	ENSP00000270349.9:n.1156+279_1156+312del
ENST00000270349.11:c.1156+279_1156+312del	ENSP00000270349.9:n.1156+279_1156+312del
NM_001044.4:c.1156+279_1156+312del	NP_001035.1:n.1156+279_1156+312del
NM_001044.5:c.1156+279_1156+312del MANE Select	NP_001035.1:n.1156+279_1156+312del