Canonical Allele Identifier: CA1072522246

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414399-G-GGGGGGCCGGGAGGGTCAGGGCGGAGAAGGCACTGGGT
• gnomAD v4: 5-1414399-G-GGGGGGCCGGGAGGGTCAGGGCGGAGAAGGCACTGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414404_1414405insCCGGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGG , CM000667.2:g.1414404_1414405insCCGGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGG	GRCh38
NC_000005.9:g.1414519_1414520insCCGGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGG , CM000667.1:g.1414519_1414520insCCGGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGG	GRCh37
NC_000005.8:g.1467519_1467520insCCGGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGG	NCBI36
NG_015885.1:g.36029_36030insACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCC MANE Select	ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCT...
ENST00000270349.11:c.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCC	ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCT...
NM_001044.4:c.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCC	NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCTGACCCT...
NM_001044.5:c.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCCCCC MANE Select	NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCTGACCCT...