Canonical Allele Identifier: CA553252497

Gene: SNCA

Linked Data

• dbSNP Id: rs1230703306
• gnomAD v2: 4-90646380-AGGAGG-A
• gnomAD v3: 4-89725229-AGGAGG-A
• gnomAD v4: 4-89725229-AGGAGG-A
• MyVariant Identifiers: chr4:g.90646381_90646385del (hg19) ; chr4:g.89725230_89725234del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89725230_89725234del , CM000666.2:g.89725230_89725234del	GRCh38
NC_000004.11:g.90646381_90646385del , CM000666.1:g.90646381_90646385del	GRCh37
NC_000004.10:g.90865404_90865408del	NCBI36
NG_011851.1:g.118063_118067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394991.8:c.*1394_*1398del MANE Select	ENSP00000378442.4:n.*1394_*1398del
ENST00000673718.1:c.*1394_*1398del	ENSP00000500990.1:n.*1394_*1398del
ENST00000673766.1:n.2072_2076del
ENST00000673902.1:c.390+3960_390+3964del	ENSP00000501102.1:n.390+3960_390+3964del
ENST00000336904.7:c.*1394_*1398del	ENSP00000338345.3:n.*1394_*1398del
ENST00000394989.6:c.*1394_*1398del	ENSP00000378440.2:n.*1394_*1398del
ENST00000420646.6:c.*1394_*1398del	ENSP00000396241.2:n.*1394_*1398del
ENST00000618500.4:c.*1394_*1398del	ENSP00000484044.1:n.*1394_*1398del
NM_000345.3:c.*1394_*1398del	NP_000336.1:n.*1394_*1398del
NM_001146054.1:c.*1394_*1398del	NP_001139526.1:n.*1394_*1398del
NM_001146055.1:c.*1394_*1398del	NP_001139527.1:n.*1394_*1398del
NM_007308.2:c.*1394_*1398del	NP_009292.1:n.*1394_*1398del
NM_000345.4:c.*1394_*1398del MANE Select	NP_000336.1:n.*1394_*1398del
NM_001146054.2:c.*1394_*1398del	NP_001139526.1:n.*1394_*1398del
NM_001146055.2:c.*1394_*1398del	NP_001139527.1:n.*1394_*1398del
NM_001375285.1:c.*1394_*1398del	NP_001362214.1:n.*1394_*1398del
NM_001375286.1:c.*1394_*1398del	NP_001362215.1:n.*1394_*1398del
NM_001375287.1:c.*1394_*1398del	NP_001362216.1:n.*1394_*1398del
NM_001375288.1:c.*1394_*1398del	NP_001362217.1:n.*1394_*1398del
NM_001375290.1:c.*1394_*1398del	NP_001362219.1:n.*1394_*1398del
NR_164674.1:n.1357_1361del
NR_164675.1:n.1504_1508del
NR_164676.1:n.2115_2119del
NM_007308.3:c.*1394_*1398del	NP_009292.1:n.*1394_*1398del