Canonical Allele Identifier: CA2845552528
Gene: NIPBL-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876672del , CM000667.2:g.36876672del GRCh38
NC_000005.9:g.36876774del , CM000667.1:g.36876774del GRCh37
NC_000005.8:g.36912531del NCBI36
NG_006987.1:g.4790del
NG_006987.2:g.4790del

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.23del