Canonical Allele Identifier: CA1072524728

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414460-G-GGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGAA
• gnomAD v4: 5-1414460-G-GGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414468_1414469insACTGGGTGGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGC , CM000667.2:g.1414468_1414469insACTGGGTGGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGC	GRCh38
NC_000005.9:g.1414583_1414584insACTGGGTGGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGC , CM000667.1:g.1414583_1414584insACTGGGTGGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGC	GRCh37
NC_000005.8:g.1467583_1467584insACTGGGTGGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGC	NCBI36
NG_015885.1:g.35968_35969insTTCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCC MANE Select	ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCC...
ENST00000270349.11:c.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCC	ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCC...
NM_001044.4:c.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCC	NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCCACC...
NM_001044.5:c.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCC MANE Select	NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCCACC...