Canonical Allele Identifier: CA1522626789

Gene: SLC6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414415_1414491delinsGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT , CM000667.2:g.1414415_1414491delinsGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT	GRCh38
NC_000005.9:g.1414530_1414606delinsGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT , CM000667.1:g.1414530_1414606delinsGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT	GRCh37
NC_000005.8:g.1467530_1467606delinsGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT	NCBI36
NG_015885.1:g.35938_36014delinsACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+200_1156+276delinsACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGC MANE Select	ENSP00000270349.9:n.1156+200_1156+276delinsACCCTCCAGGCCCCCCAC...
ENST00000270349.11:c.1156+200_1156+276delinsACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGC	ENSP00000270349.9:n.1156+200_1156+276delinsACCCTCCAGGCCCCCCAC...
NM_001044.4:c.1156+200_1156+276delinsACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGC	NP_001035.1:n.1156+200_1156+276delinsACCCTCCAGGCCCCCCACCCAGCG...
NM_001044.5:c.1156+200_1156+276delinsACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGC MANE Select	NP_001035.1:n.1156+200_1156+276delinsACCCTCCAGGCCCCCCACCCAGCG...