Canonical Allele Identifier: CA2697547369

Gene: GDF5 GDF5-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434389del , CM000682.2:g.35434389del	GRCh38
NC_000020.10:g.34022187del , CM000682.1:g.34022187del	GRCh37
NC_000020.9:g.33485601del	NCBI36
NG_008076.2:g.8832del
NG_008076.3:g.25359del

Transcript Alleles

HGVS	Amino-acid Change
NM_000557.5:c.1027del (GDF5) MANE Select	NP_000548.2:p.Leu343TrpfsTer?
ENST00000374369.8:c.1027del (GDF5) MANE Select	ENSP00000363489.3:p.Leu343TrpfsTer?
NM_000557.4:c.1027del (GDF5)	NP_000548.2:p.Leu343TrpfsTer?
NM_001319138.1:c.1027del (GDF5)	NP_001306067.1:p.Leu343TrpfsTer?
NM_001319138.2:c.1027del (GDF5)	NP_001306067.1:p.Leu343TrpfsTer?
NM_001355428.1:c.231del (GDF5-AS1)	NP_001342357.1:p.Asn78ThrfsTer?
NR_161326.1:n.673del (GDF5-AS1)
ENST00000374369.7:c.1027del (GDF5)	ENSP00000363489.3:p.Leu343TrpfsTer?
ENST00000374372.1:c.1027del (GDF5)	ENSP00000363492.1:p.Leu343TrpfsTer?
ENST00000374375.1:c.231del (GDF5-AS1)	ENSP00000363495.1:p.Asn78ThrfsTer?
XM_011529075.1:c.1027del (GDF5)	XP_011527377.1:p.Leu343TrpfsTer?
XM_011529076.1:c.1027del (GDF5)	XP_011527378.1:p.Leu343TrpfsTer?