Canonical Allele Identifier: CA2079394077

Linked Data

dbSNP Id: rs1953908139

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24883105_24883106del , CM000675.2:g.24883105_24883106del GRCh38
NC_000013.10:g.25457243_25457244del , CM000675.1:g.25457243_25457244del GRCh37
NC_000013.9:g.24355243_24355244del NCBI36
NG_009165.2:g.44843_44844del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381884.9:c.*72_*73del (CENPJ) MANE Select ENSP00000371308.4:n.*72_*73del
ENST00000381884.8:c.*72_*73del (CENPJ) ENSP00000371308.4:n.*72_*73del
ENST00000616936.4:c.*743_*744del (CENPJ) ENSP00000477511.1:n.*743_*744del
NM_018451.4:c.*72_*73del (CENPJ) NP_060921.3:n.*72_*73del
NR_047594.1:n.4401_4402del (CENPJ)
NR_047595.1:n.4199_4200del (CENPJ)
XM_011535156.1:c.*10+3810_*10+3811del (RNF17) XP_011533458.1:n.*10+3810_*10+3811del
XM_011535156.2:c.*10+3810_*10+3811del (RNF17) XP_011533458.1:n.*10+3810_*10+3811del
NM_018451.5:c.*72_*73del (CENPJ) MANE Select NP_060921.3:n.*72_*73del
NR_047594.2:n.4373_4374del (CENPJ)
NR_047595.2:n.4171_4172del (CENPJ)