Canonical Allele Identifier: CA1072524616

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414458-G-GAAGGGAAGGCGCTGGGTGGGGGGC
• gnomAD v4: 5-1414458-G-GAAGGGAAGGCGCTGGGTGGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414458_1414459insAAGGGAAGGCGCTGGGTGGGGGGC , CM000667.2:g.1414458_1414459insAAGGGAAGGCGCTGGGTGGGGGGC	GRCh38
NC_000005.9:g.1414573_1414574insAAGGGAAGGCGCTGGGTGGGGGGC , CM000667.1:g.1414573_1414574insAAGGGAAGGCGCTGGGTGGGGGGC	GRCh37
NC_000005.8:g.1467573_1467574insAAGGGAAGGCGCTGGGTGGGGGGC	NCBI36
NG_015885.1:g.35970_35971insGCCCCCCACCCAGCGCCTTCCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+232_1156+233insGCCCCCCACCCAGCGCCTTCCCTT MANE Select	ENSP00000270349.9:n.1156+232_1156+233insGCCCCCCACCCAGCGCCTTCC...
ENST00000270349.11:c.1156+232_1156+233insGCCCCCCACCCAGCGCCTTCCCTT	ENSP00000270349.9:n.1156+232_1156+233insGCCCCCCACCCAGCGCCTTCC...
NM_001044.4:c.1156+232_1156+233insGCCCCCCACCCAGCGCCTTCCCTT	NP_001035.1:n.1156+232_1156+233insGCCCCCCACCCAGCGCCTTCCCTT
NM_001044.5:c.1156+232_1156+233insGCCCCCCACCCAGCGCCTTCCCTT MANE Select	NP_001035.1:n.1156+232_1156+233insGCCCCCCACCCAGCGCCTTCCCTT