Canonical Allele Identifier: CA2693514211

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950078del , CM000685.2:g.43950078del GRCh38
NC_000023.10:g.43809324del , CM000685.1:g.43809324del GRCh37
NC_000023.9:g.43694268del NCBI36
NG_009832.1:g.28599del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.175-51del (NDP) MANE Select ENSP00000495972.1:n.175-51del
ENST00000647044.1:c.175-51del (NDP) ENSP00000495811.1:n.175-51del
ENST00000378062.5:c.175-51del (NDP) ENSP00000367301.5:n.175-51del
ENST00000470584.1:n.219-51del (NDP)
NM_000266.3:c.175-51del (NDP) NP_000257.1:n.175-51del
NR_046631.1:n.347del (NDP-AS1)
NM_000266.4:c.175-51del (NDP) MANE Select NP_000257.1:n.175-51del