Canonical Allele Identifier: CA553252537

Gene: SNCA

Linked Data

• dbSNP Id: rs1724794089
• gnomAD v2: 4-90646490-AGC-A
• gnomAD v3: 4-89725339-AGC-A
• gnomAD v4: 4-89725339-AGC-A
• MyVariant Identifiers: chr4:g.90646492_90646493del (hg19) ; chr4:g.89725341_89725342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89725341_89725342del , CM000666.2:g.89725341_89725342del	GRCh38
NC_000004.11:g.90646492_90646493del , CM000666.1:g.90646492_90646493del	GRCh37
NC_000004.10:g.90865515_90865516del	NCBI36
NG_011851.1:g.117956_117957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394991.8:c.*1287_*1288del MANE Select	ENSP00000378442.4:n.*1287_*1288del
ENST00000673718.1:c.*1287_*1288del	ENSP00000500990.1:n.*1287_*1288del
ENST00000673766.1:n.1965_1966del
ENST00000673902.1:c.390+3853_390+3854del	ENSP00000501102.1:n.390+3853_390+3854del
ENST00000336904.7:c.*1287_*1288del	ENSP00000338345.3:n.*1287_*1288del
ENST00000394989.6:c.*1287_*1288del	ENSP00000378440.2:n.*1287_*1288del
ENST00000420646.6:c.*1287_*1288del	ENSP00000396241.2:n.*1287_*1288del
ENST00000618500.4:c.*1287_*1288del	ENSP00000484044.1:n.*1287_*1288del
NM_000345.3:c.*1287_*1288del	NP_000336.1:n.*1287_*1288del
NM_001146054.1:c.*1287_*1288del	NP_001139526.1:n.*1287_*1288del
NM_001146055.1:c.*1287_*1288del	NP_001139527.1:n.*1287_*1288del
NM_007308.2:c.*1287_*1288del	NP_009292.1:n.*1287_*1288del
NM_000345.4:c.*1287_*1288del MANE Select	NP_000336.1:n.*1287_*1288del
NM_001146054.2:c.*1287_*1288del	NP_001139526.1:n.*1287_*1288del
NM_001146055.2:c.*1287_*1288del	NP_001139527.1:n.*1287_*1288del
NM_001375285.1:c.*1287_*1288del	NP_001362214.1:n.*1287_*1288del
NM_001375286.1:c.*1287_*1288del	NP_001362215.1:n.*1287_*1288del
NM_001375287.1:c.*1287_*1288del	NP_001362216.1:n.*1287_*1288del
NM_001375288.1:c.*1287_*1288del	NP_001362217.1:n.*1287_*1288del
NM_001375290.1:c.*1287_*1288del	NP_001362219.1:n.*1287_*1288del
NR_164674.1:n.1277-27_1277-26del
NR_164675.1:n.1424-27_1424-26del
NR_164676.1:n.2008_2009del
NM_007308.3:c.*1287_*1288del	NP_009292.1:n.*1287_*1288del