Canonical Allele Identifier: CA1072527050

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414498-G-GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGAGAA
• gnomAD v4: 5-1414498-G-GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414500_1414501insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGAGAAGG , CM000667.2:g.1414500_1414501insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGAGAAGG	GRCh38
NC_000005.9:g.1414615_1414616insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGAGAAGG , CM000667.1:g.1414615_1414616insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGAGAAGG	GRCh37
NC_000005.8:g.1467615_1467616insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGAGAAGG	NCBI36
NG_015885.1:g.35930_35931insTTCTCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+192_1156+193insTTCTCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC MANE Select	ENSP00000270349.9:n.1156+192_1156+193insTTCTCTGCCCCTCCCGGCCCC...
ENST00000270349.11:c.1156+192_1156+193insTTCTCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC	ENSP00000270349.9:n.1156+192_1156+193insTTCTCTGCCCCTCCCGGCCCC...
NM_001044.4:c.1156+192_1156+193insTTCTCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC	NP_001035.1:n.1156+192_1156+193insTTCTCTGCCCCTCCCGGCCCCCCACCC...
NM_001044.5:c.1156+192_1156+193insTTCTCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC MANE Select	NP_001035.1:n.1156+192_1156+193insTTCTCTGCCCCTCCCGGCCCCCCACCC...