Canonical Allele Identifier: CA2693514496

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958394_43958396del , CM000685.2:g.43958394_43958396del GRCh38
NC_000023.10:g.43817640_43817642del , CM000685.1:g.43817640_43817642del GRCh37
NC_000023.9:g.43702584_43702586del NCBI36
NG_009832.1:g.20281_20283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.174+77_174+79del (NDP) MANE Select ENSP00000495972.1:n.174+77_174+79del
ENST00000647044.1:c.174+77_174+79del (NDP) ENSP00000495811.1:n.174+77_174+79del
ENST00000378062.5:c.174+77_174+79del (NDP) ENSP00000367301.5:n.174+77_174+79del
ENST00000470584.1:n.218+323_218+325del (NDP)
NM_000266.3:c.174+77_174+79del (NDP) NP_000257.1:n.174+77_174+79del
NR_046631.1:n.467-2391_467-2389del (NDP-AS1)
NM_000266.4:c.174+77_174+79del (NDP) MANE Select NP_000257.1:n.174+77_174+79del