Canonical Allele Identifier: CA1072527652

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414516-G-GGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA
• gnomAD v4: 5-1414516-G-GGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGG	GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGG	GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGG	NCBI36
NG_015885.1:g.35912_35913insTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+174_1156+175insTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC MANE Select	ENSP00000270349.9:n.1156+174_1156+175insTTCCCCGCCCTGCCCCTCCCG...
ENST00000270349.11:c.1156+174_1156+175insTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC	ENSP00000270349.9:n.1156+174_1156+175insTTCCCCGCCCTGCCCCTCCCG...
NM_001044.4:c.1156+174_1156+175insTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC	NP_001035.1:n.1156+174_1156+175insTTCCCCGCCCTGCCCCTCCCGGCCCCC...
NM_001044.5:c.1156+174_1156+175insTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC MANE Select	NP_001035.1:n.1156+174_1156+175insTTCCCCGCCCTGCCCCTCCCGGCCCCC...