Canonical Allele Identifier: CA1072524806

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414460-G-GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA
• gnomAD v4: 5-1414460-G-GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGC , CM000667.2:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGC	GRCh38
NC_000005.9:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGC , CM000667.1:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGC	GRCh37
NC_000005.8:g.1467583_1467584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGC	NCBI36
NG_015885.1:g.35968_35969insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+230_1156+231insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select	ENSP00000270349.9:n.1156+230_1156+231insTGCCCCTCCCGGCCCCCCACC...
ENST00000270349.11:c.1156+230_1156+231insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC	ENSP00000270349.9:n.1156+230_1156+231insTGCCCCTCCCGGCCCCCCACC...
NM_001044.4:c.1156+230_1156+231insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC	NP_001035.1:n.1156+230_1156+231insTGCCCCTCCCGGCCCCCCACCCAGTGC...
NM_001044.5:c.1156+230_1156+231insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select	NP_001035.1:n.1156+230_1156+231insTGCCCCTCCCGGCCCCCCACCCAGTGC...