Canonical Allele Identifier: CA1522627130

Gene: SLC6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414467_1414470delinsGCGC , CM000667.2:g.1414467_1414470delinsGCGC	GRCh38
NC_000005.9:g.1414582_1414585delinsGCGC , CM000667.1:g.1414582_1414585delinsGCGC	GRCh37
NC_000005.8:g.1467582_1467585delinsGCGC	NCBI36
NG_015885.1:g.35959_35962delinsGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+221_1156+224delinsGCGC MANE Select	ENSP00000270349.9:n.1156+221_1156+224delinsGCGC
ENST00000270349.11:c.1156+221_1156+224delinsGCGC	ENSP00000270349.9:n.1156+221_1156+224delinsGCGC
NM_001044.4:c.1156+221_1156+224delinsGCGC	NP_001035.1:n.1156+221_1156+224delinsGCGC
NM_001044.5:c.1156+221_1156+224delinsGCGC MANE Select	NP_001035.1:n.1156+221_1156+224delinsGCGC