Canonical Allele Identifier: CA10604807
Gene: NEU1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 284472
ClinVar RCV Id: RCV000269268
dbSNP Id: rs886042881

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31859733_31859737delinsTTTGGC , CM000668.2:g.31859733_31859737delinsTTTGGC GRCh38
NC_000006.11:g.31827510_31827514delinsTTTGGC , CM000668.1:g.31827510_31827514delinsTTTGGC GRCh37
NC_000006.10:g.31935489_31935493delinsTTTGGC NCBI36
NG_008201.1:g.8196_8200delinsGCCAAA

Transcript Alleles

HGVS Amino-acid change
NM_000434.3:c.1230_1234delinsGCCAAA VV NP_000425.1:p.Ser410ArgfsTer29
ENST00000375631.4:c.1230_1234delinsGCCAAA ENSP00000364782.4:p.Ser410ArgfsTer29
ENST00000480384.1:n.1529_1533delinsGCCAAA
ENST00000491768.5:c.*340_*344delinsGCCAAA ENSP00000433127.1:p.=
ENST00000495807.1:n.2538_2542delinsGCCAAA