Canonical Allele Identifier: CA2590929361

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414490-G-GGCAGGGAGGGGAAGGCGC
• gnomAD v4: 5-1414490-G-GGCAGGGAGGGGAAGGCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414490_1414491insGCAGGGAGGGGAAGGCGC , CM000667.2:g.1414490_1414491insGCAGGGAGGGGAAGGCGC	GRCh38
NC_000005.9:g.1414605_1414606insGCAGGGAGGGGAAGGCGC , CM000667.1:g.1414605_1414606insGCAGGGAGGGGAAGGCGC	GRCh37
NC_000005.8:g.1467605_1467606insGCAGGGAGGGGAAGGCGC	NCBI36
NG_015885.1:g.35938_35939insGCGCCTTCCCCTCCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+200_1156+201insGCGCCTTCCCCTCCCTGC MANE Select	ENSP00000270349.9:n.1156+200_1156+201insGCGCCTTCCCCTCCCTGC
ENST00000270349.11:c.1156+200_1156+201insGCGCCTTCCCCTCCCTGC	ENSP00000270349.9:n.1156+200_1156+201insGCGCCTTCCCCTCCCTGC
NM_001044.4:c.1156+200_1156+201insGCGCCTTCCCCTCCCTGC	NP_001035.1:n.1156+200_1156+201insGCGCCTTCCCCTCCCTGC
NM_001044.5:c.1156+200_1156+201insGCGCCTTCCCCTCCCTGC MANE Select	NP_001035.1:n.1156+200_1156+201insGCGCCTTCCCCTCCCTGC