Canonical Allele Identifier: CA2426745227

Linked Data

dbSNP Id: rs2035749395

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949786dup , CM000685.2:g.43949786dup GRCh38
NC_000023.10:g.43809032dup , CM000685.1:g.43809032dup GRCh37
NC_000023.9:g.43693976dup NCBI36
NG_009832.1:g.28890dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.*13dup (NDP) MANE Select ENSP00000495972.1:n.*13dup
ENST00000647044.1:c.*13dup (NDP) ENSP00000495811.1:n.*13dup
ENST00000378062.5:c.*13dup (NDP) ENSP00000367301.5:n.*13dup
ENST00000470584.1:n.459dup (NDP)
NM_000266.3:c.*13dup (NDP) NP_000257.1:n.*13dup
NR_046631.1:n.55dup (NDP-AS1)
NM_000266.4:c.*13dup (NDP) MANE Select NP_000257.1:n.*13dup