Canonical Allele Identifier: CA1072527396

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414507-G-GGGTGGGGGGGCCGGGGGGGGCAGGGCAGGGAAGGCA
• gnomAD v4: 5-1414507-G-GGGTGGGGGGGCCGGGGGGGGCAGGGCAGGGAAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414507_1414508insGGTGGGGGGGCCGGGGGGGGCAGGGCAGGGAAGGCA , CM000667.2:g.1414507_1414508insGGTGGGGGGGCCGGGGGGGGCAGGGCAGGGAAGGCA	GRCh38
NC_000005.9:g.1414622_1414623insGGTGGGGGGGCCGGGGGGGGCAGGGCAGGGAAGGCA , CM000667.1:g.1414622_1414623insGGTGGGGGGGCCGGGGGGGGCAGGGCAGGGAAGGCA	GRCh37
NC_000005.8:g.1467622_1467623insGGTGGGGGGGCCGGGGGGGGCAGGGCAGGGAAGGCA	NCBI36
NG_015885.1:g.35921_35922insTGCCTTCCCTGCCCTGCCCCCCCCGGCCCCCCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCCCCCGGCCCCCCCACC MANE Select	ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCC...
ENST00000270349.11:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCCCCCGGCCCCCCCACC	ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCC...
NM_001044.4:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCCCCCGGCCCCCCCACC	NP_001035.1:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCCCCCGGC...
NM_001044.5:c.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCCCCCGGCCCCCCCACC MANE Select	NP_001035.1:n.1156+183_1156+184insTGCCTTCCCTGCCCTGCCCCCCCCGGC...