Canonical Allele Identifier: CA2695233484

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949962_43949964del , CM000685.2:g.43949962_43949964del GRCh38
NC_000023.10:g.43809208_43809210del , CM000685.1:g.43809208_43809210del GRCh37
NC_000023.9:g.43694152_43694154del NCBI36
NG_009832.1:g.28714_28716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.239_241del (NDP) MANE Select ENSP00000495972.1:p.Ser80del
ENST00000647044.1:c.239_241del (NDP) ENSP00000495811.1:p.Ser80del
ENST00000378062.5:c.239_241del (NDP) ENSP00000367301.5:p.Ser80del
ENST00000470584.1:n.283_285del (NDP)
NM_000266.3:c.239_241del (NDP) NP_000257.1:p.Ser80del
NR_046631.1:n.231_233del (NDP-AS1)
NM_000266.4:c.239_241del (NDP) MANE Select NP_000257.1:p.Ser80del