Canonical Allele Identifier: CA2820657047

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950015del , CM000685.2:g.43950015del GRCh38
NC_000023.10:g.43809261del , CM000685.1:g.43809261del GRCh37
NC_000023.9:g.43694205del NCBI36
NG_009832.1:g.28662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.187del (NDP) MANE Select ENSP00000495972.1:p.Ala63ProfsTer?
ENST00000647044.1:c.187del (NDP) ENSP00000495811.1:p.Ala63ProfsTer?
ENST00000378062.5:c.187del (NDP) ENSP00000367301.5:p.Ala63ProfsTer?
ENST00000470584.1:n.231del (NDP)
NM_000266.3:c.187del (NDP) NP_000257.1:p.Ala63ProfsTer?
NR_046631.1:n.284del (NDP-AS1)
NM_000266.4:c.187del (NDP) MANE Select NP_000257.1:p.Ala63ProfsTer?