Canonical Allele Identifier: CA9832231
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434611_35434633dup , CM000682.2:g.35434611_35434633dup GRCh38
NC_000020.10:g.34022409_34022431dup , CM000682.1:g.34022409_34022431dup GRCh37
NC_000020.9:g.33485823_33485845dup NCBI36
NG_008076.2:g.8593_8615dup
NG_008076.3:g.25120_25142dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374369.8:c.788_810dup (GDF5) MANE Select ENSP00000363489.3:p.Gly271Ter
ENST00000374369.7:c.788_810dup (GDF5) ENSP00000363489.3:p.Gly271Ter
ENST00000374372.1:c.788_810dup (GDF5) ENSP00000363492.1:p.Gly271Ter
ENST00000374375.1:c.453_475dup (GDF5-AS1) ENSP00000363495.1:p.Ala159GlyfsTer?
NM_000557.4:c.788_810dup (GDF5) NP_000548.2:p.Gly271Ter
XM_011529075.1:c.788_810dup (GDF5) XP_011527377.1:p.Gly271Ter
XM_011529076.1:c.788_810dup (GDF5) XP_011527378.1:p.Gly271Ter
NM_001319138.1:c.788_810dup (GDF5) NP_001306067.1:p.Gly271Ter
NM_001355428.1:c.453_475dup (GDF5-AS1) NP_001342357.1:p.Ala159GlyfsTer?
NM_000557.5:c.788_810dup (GDF5) MANE Select NP_000548.2:p.Gly271Ter
NM_001319138.2:c.788_810dup (GDF5) NP_001306067.1:p.Gly271Ter
NR_161326.1:n.895_917dup (GDF5-AS1)