Canonical Allele Identifier: CA2573157057
Community Standard Title: NM_000557.5(GDF5):c.1093_1094delinsAT (p.Asp365Ile)
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434321_35434322delinsAT , CM000682.2:g.35434321_35434322delinsAT GRCh38
NC_000020.10:g.34022119_34022120delinsAT , CM000682.1:g.34022119_34022120delinsAT GRCh37
NC_000020.9:g.33485533_33485534delinsAT NCBI36
NG_008076.2:g.8898_8899delinsAT
NG_008076.3:g.25425_25426delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_000557.5:c.1093_1094delinsAT (GDF5) MANE Select NP_000548.2:p.Asp365Ile
ENST00000374369.8:c.1093_1094delinsAT (GDF5) MANE Select ENSP00000363489.3:p.Asp365Ile
NM_000557.4:c.1093_1094delinsAT (GDF5) NP_000548.2:p.Asp365Ile
NM_001319138.1:c.1093_1094delinsAT (GDF5) NP_001306067.1:p.Asp365Ile
NM_001319138.2:c.1093_1094delinsAT (GDF5) NP_001306067.1:p.Asp365Ile
NM_001355428.1:c.163_164delinsAT (GDF5-AS1) NP_001342357.1:p.Ser55Ile
NR_161326.1:n.605_606delinsAT (GDF5-AS1)
ENST00000374369.7:c.1093_1094delinsAT (GDF5) ENSP00000363489.3:p.Asp365Ile
ENST00000374372.1:c.1093_1094delinsAT (GDF5) ENSP00000363492.1:p.Asp365Ile
ENST00000374375.1:c.163_164delinsAT (GDF5-AS1) ENSP00000363495.1:p.Ser55Ile
XM_011529075.1:c.1093_1094delinsAT (GDF5) XP_011527377.1:p.Asp365Ile
XM_011529076.1:c.1093_1094delinsAT (GDF5) XP_011527378.1:p.Asp365Ile