Canonical Allele Identifier: CA2693585232
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574530-G-GGGCGCTGCTGCAATGGGGGTCCCT
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574538_47574561dup , CM000685.2:g.47574538_47574561dup GRCh38
NC_000023.10:g.47433937_47433960dup , CM000685.1:g.47433937_47433960dup GRCh37
NC_000023.9:g.47318881_47318904dup NCBI36
NG_008437.1:g.50304_50327dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1430_1453dup MANE Select ENSP00000295987.7:p.Arg484_Pro485insGlnGlyProProLeuGlnGlnArg
ENST00000340666.5:c.1430_1453dup ENSP00000343206.4:p.Arg484_Pro485insGlnGlyProProLeuGlnGlnArg
ENST00000640721.1:c.70+134_70+157dup ENSP00000492857.1:n.70+134_70+157dup
ENST00000295987.11:c.1430_1453dup ENSP00000295987.7:p.Arg484_Pro485insGlnGlyProProLeuGlnGlnArg
ENST00000340666.4:c.1430_1453dup ENSP00000343206.4:p.Arg484_Pro485insGlnGlyProProLeuGlnGlnArg
NM_006950.3:c.1430_1453dup MANE Select NP_008881.2:p.Arg484_Pro485insGlnGlyProProLeuGlnGlnArg
NM_133499.2:c.1430_1453dup NP_598006.1:p.Arg484_Pro485insGlnGlyProProLeuGlnGlnArg
Search 100 bp 5'
Search 100 bp 3'