Canonical Allele Identifier: CA2816238746
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35433908_35433910dup , CM000682.2:g.35433908_35433910dup GRCh38
NC_000020.10:g.34021706_34021708dup , CM000682.1:g.34021706_34021708dup GRCh37
NC_000020.9:g.33485120_33485122dup NCBI36
NG_008076.2:g.9314_9316dup
NG_008076.3:g.25841_25843dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374369.8:c.*3_*5dup (GDF5) MANE Select ENSP00000363489.3:n.*3_*5dup
ENST00000374369.7:c.*3_*5dup (GDF5) ENSP00000363489.3:n.*3_*5dup
ENST00000374372.1:c.*3_*5dup (GDF5) ENSP00000363492.1:n.*3_*5dup
ENST00000374375.1:c.-251_-249dup (GDF5-AS1) ENSP00000363495.1:n.-251_-249dup
NM_000557.4:c.*3_*5dup (GDF5) NP_000548.2:n.*3_*5dup
XM_011529075.1:c.*3_*5dup (GDF5) XP_011527377.1:n.*3_*5dup
XM_011529076.1:c.*3_*5dup (GDF5) XP_011527378.1:n.*3_*5dup
NM_001319138.1:c.*3_*5dup (GDF5) NP_001306067.1:n.*3_*5dup
NM_001355428.1:c.-251_-249dup (GDF5-AS1) NP_001342357.1:n.-251_-249dup
NM_000557.5:c.*3_*5dup (GDF5) MANE Select NP_000548.2:n.*3_*5dup
NM_001319138.2:c.*3_*5dup (GDF5) NP_001306067.1:n.*3_*5dup
NR_161326.1:n.192_194dup (GDF5-AS1)