Canonical Allele Identifier: CA2695233466

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949799_43949800del , CM000685.2:g.43949799_43949800del GRCh38
NC_000023.10:g.43809045_43809046del , CM000685.1:g.43809045_43809046del GRCh37
NC_000023.9:g.43693989_43693990del NCBI36
NG_009832.1:g.28877_28878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.402_*1del (NDP) MANE Select ENSP00000495972.1:n.[c.402_*1del;Ter134TrpextTer14]
ENST00000647044.1:c.402_*1del (NDP) ENSP00000495811.1:n.[c.402_*1del;Ter134TrpextTer14]
ENST00000378062.5:c.402_*1del (NDP) ENSP00000367301.5:n.[c.402_*1del;Ter134TrpextTer14]
ENST00000470584.1:n.446_447del (NDP)
NM_000266.3:c.402_*1del (NDP) NP_000257.1:n.[c.402_*1del;Ter134TrpextTer14]
NR_046631.1:n.68_69del (NDP-AS1)
NM_000266.4:c.402_*1del (NDP) MANE Select NP_000257.1:n.[c.402_*1del;Ter134TrpextTer14]