Canonical Allele Identifier: CA1072527007

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG	GRCh38
NC_000005.9:g.1414633_1414634insGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG	GRCh37
NC_000005.8:g.1467633_1467634insGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGG	NCBI36
NG_015885.1:g.35930_35931insTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCC

Transcript Alleles

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