Canonical Allele Identifier: CA1072527646

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG	GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG	GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG	NCBI36
NG_015885.1:g.35912_35913insTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC

Transcript Alleles

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