Canonical Allele Identifier: CA875561255

Linked Data

dbSNP Id: rs1484608803

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958354_43958356dup , CM000685.2:g.43958354_43958356dup GRCh38
NC_000023.10:g.43817600_43817602dup , CM000685.1:g.43817600_43817602dup GRCh37
NC_000023.9:g.43702544_43702546dup NCBI36
NG_009832.1:g.20320_20322dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.174+116_174+118dup (NDP) MANE Select ENSP00000495972.1:n.174+116_174+118dup
ENST00000647044.1:c.174+116_174+118dup (NDP) ENSP00000495811.1:n.174+116_174+118dup
ENST00000378062.5:c.174+116_174+118dup (NDP) ENSP00000367301.5:n.174+116_174+118dup
ENST00000470584.1:n.218+362_218+364dup (NDP)
NM_000266.3:c.174+116_174+118dup (NDP) NP_000257.1:n.174+116_174+118dup
NR_046631.1:n.467-2431_467-2429dup (NDP-AS1)
NM_000266.4:c.174+116_174+118dup (NDP) MANE Select NP_000257.1:n.174+116_174+118dup