Canonical Allele Identifier: CA2816239070
Gene: GDF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438116_35438117del , CM000682.2:g.35438116_35438117del GRCh38
NC_000020.10:g.34025896_34025897del , CM000682.1:g.34025896_34025897del GRCh37
NC_000020.9:g.33489310_33489311del NCBI36
NG_008076.2:g.5103_5104del
NG_008076.3:g.21630_21631del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374369.8:c.-189_-188del MANE Select ENSP00000363489.3:n.-189_-188del
ENST00000374369.7:c.-189_-188del ENSP00000363489.3:n.-189_-188del
ENST00000374372.1:c.-189_-188del ENSP00000363492.1:n.-189_-188del
NM_000557.4:c.-189_-188del NP_000548.2:n.-189_-188del
XM_011529075.1:c.-189_-188del XP_011527377.1:n.-189_-188del
XM_011529076.1:c.-189_-188del XP_011527378.1:n.-189_-188del
NM_001319138.1:c.-189_-188del NP_001306067.1:n.-189_-188del
NM_000557.5:c.-189_-188del MANE Select NP_000548.2:n.-189_-188del
NM_001319138.2:c.-189_-188del NP_001306067.1:n.-189_-188del