Canonical Allele Identifier: CA1072522144

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414399-G-GGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGT
• gnomAD v4: 5-1414399-G-GGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG , CM000667.2:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG	GRCh38
NC_000005.9:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG , CM000667.1:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG	GRCh37
NC_000005.8:g.1467538_1467539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG	NCBI36
NG_015885.1:g.36029_36030insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCC MANE Select	ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCT...
ENST00000270349.11:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCC	ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCT...
NM_001044.4:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCC	NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCT...
NM_001044.5:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCC MANE Select	NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGCCCCT...