Canonical Allele Identifier: CA1072525415

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414469-G-GGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCA
• gnomAD v4: 5-1414469-G-GGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414469_1414470insGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCA , CM000667.2:g.1414469_1414470insGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCA	GRCh38
NC_000005.9:g.1414584_1414585insGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCA , CM000667.1:g.1414584_1414585insGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCA	GRCh37
NC_000005.8:g.1467584_1467585insGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCA	NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACC MANE Select	ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCT...
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACC	ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCT...
NM_001044.4:c.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACC	NP_001035.1:n.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCAGGC...
NM_001044.5:c.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACC MANE Select	NP_001035.1:n.1156+221_1156+222insTGCCTTCCCTGCCCTGACCCTCCAGGC...