Canonical Allele Identifier: CA1072522792

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAG , CM000667.2:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAG	GRCh38
NC_000005.9:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAG , CM000667.1:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAG	GRCh37
NC_000005.8:g.1467538_1467539insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAG	NCBI36
NG_015885.1:g.36006_36007insTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC

Transcript Alleles

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