Canonical Allele Identifier: CA2427971365

Gene: SYN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574645_47574657delinsGCGGGCTGAGGGA , CM000685.2:g.47574645_47574657delinsGCGGGCTGAGGGA	GRCh38
NC_000023.10:g.47434044_47434056delinsGCGGGCTGAGGGA , CM000685.1:g.47434044_47434056delinsGCGGGCTGAGGGA	GRCh37
NC_000023.9:g.47318988_47319000delinsGCGGGCTGAGGGA	NCBI36
NG_008437.1:g.50201_50213delinsTCCCTCAGCCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1393+31_1393+43delinsTCCCTCAGCCCGC MANE Select	ENSP00000295987.7:n.1393+31_1393+43delinsTCCCTCAGCCCGC
ENST00000340666.5:c.1393+31_1393+43delinsTCCCTCAGCCCGC	ENSP00000343206.4:n.1393+31_1393+43delinsTCCCTCAGCCCGC
ENST00000640721.1:c.70+31_70+43delinsTCCCTCAGCCCGC	ENSP00000492857.1:n.70+31_70+43delinsTCCCTCAGCCCGC
ENST00000295987.11:c.1393+31_1393+43delinsTCCCTCAGCCCGC	ENSP00000295987.7:n.1393+31_1393+43delinsTCCCTCAGCCCGC
ENST00000340666.4:c.1393+31_1393+43delinsTCCCTCAGCCCGC	ENSP00000343206.4:n.1393+31_1393+43delinsTCCCTCAGCCCGC
NM_006950.3:c.1393+31_1393+43delinsTCCCTCAGCCCGC MANE Select	NP_008881.2:n.1393+31_1393+43delinsTCCCTCAGCCCGC
NM_133499.2:c.1393+31_1393+43delinsTCCCTCAGCCCGC	NP_598006.1:n.1393+31_1393+43delinsTCCCTCAGCCCGC