Canonical Allele Identifier: CA1132644799

Linked Data

dbSNP Id: rs2035807666

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958386_43958388dup , CM000685.2:g.43958386_43958388dup GRCh38
NC_000023.10:g.43817632_43817634dup , CM000685.1:g.43817632_43817634dup GRCh37
NC_000023.9:g.43702576_43702578dup NCBI36
NG_009832.1:g.20289_20291dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.174+85_174+87dup (NDP) MANE Select ENSP00000495972.1:n.174+85_174+87dup
ENST00000647044.1:c.174+85_174+87dup (NDP) ENSP00000495811.1:n.174+85_174+87dup
ENST00000378062.5:c.174+85_174+87dup (NDP) ENSP00000367301.5:n.174+85_174+87dup
ENST00000470584.1:n.218+331_218+333dup (NDP)
NM_000266.3:c.174+85_174+87dup (NDP) NP_000257.1:n.174+85_174+87dup
NR_046631.1:n.467-2399_467-2397dup (NDP-AS1)
NM_000266.4:c.174+85_174+87dup (NDP) MANE Select NP_000257.1:n.174+85_174+87dup