Canonical Allele Identifier: CA2427971143

Gene: SYN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573988_47573994delinsAGGGGTC , CM000685.2:g.47573988_47573994delinsAGGGGTC	GRCh38
NC_000023.10:g.47433387_47433393delinsAGGGGTC , CM000685.1:g.47433387_47433393delinsAGGGGTC	GRCh37
NC_000023.9:g.47318331_47318337delinsAGGGGTC	NCBI36
NG_008437.1:g.50864_50870delinsGACCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1982+8_1982+14delinsGACCCCT MANE Select	ENSP00000295987.7:n.1982+8_1982+14delinsGACCCCT
ENST00000340666.5:c.1982+8_1982+14delinsGACCCCT	ENSP00000343206.4:n.1982+8_1982+14delinsGACCCCT
ENST00000640721.1:c.70+694_70+700delinsGACCCCT	ENSP00000492857.1:n.70+694_70+700delinsGACCCCT
ENST00000295987.11:c.1982+8_1982+14delinsGACCCCT	ENSP00000295987.7:n.1982+8_1982+14delinsGACCCCT
ENST00000340666.4:c.1982+8_1982+14delinsGACCCCT	ENSP00000343206.4:n.1982+8_1982+14delinsGACCCCT
NM_006950.3:c.1982+8_1982+14delinsGACCCCT MANE Select	NP_008881.2:n.1982+8_1982+14delinsGACCCCT
NM_133499.2:c.1982+8_1982+14delinsGACCCCT	NP_598006.1:n.1982+8_1982+14delinsGACCCCT