Canonical Allele Identifier: CA1072522787

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414422-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCA
• gnomAD v4: 5-1414422-G-GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414423_1414424insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCAG , CM000667.2:g.1414423_1414424insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCAG	GRCh38
NC_000005.9:g.1414538_1414539insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCAG , CM000667.1:g.1414538_1414539insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCAG	GRCh37
NC_000005.8:g.1467538_1467539insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCAG	NCBI36
NG_015885.1:g.36006_36007insTGCCCTGACCCTCCCGGCCCCCCACCCAGCGCCTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+268_1156+269insTGCCCTGACCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select	ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGACCCTCCCGGCCCC...
ENST00000270349.11:c.1156+268_1156+269insTGCCCTGACCCTCCCGGCCCCCCACCCAGCGCCTTCCC	ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGACCCTCCCGGCCCC...
NM_001044.4:c.1156+268_1156+269insTGCCCTGACCCTCCCGGCCCCCCACCCAGCGCCTTCCC	NP_001035.1:n.1156+268_1156+269insTGCCCTGACCCTCCCGGCCCCCCACCC...
NM_001044.5:c.1156+268_1156+269insTGCCCTGACCCTCCCGGCCCCCCACCCAGCGCCTTCCC MANE Select	NP_001035.1:n.1156+268_1156+269insTGCCCTGACCCTCCCGGCCCCCCACCC...