Canonical Allele Identifier: CA2361649286
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2062456407

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434061_35434063del , CM000682.2:g.35434061_35434063del GRCh38
NC_000020.10:g.34021859_34021861del , CM000682.1:g.34021859_34021861del GRCh37
NC_000020.9:g.33485273_33485275del NCBI36
NG_008076.2:g.9157_9159del
NG_008076.3:g.25684_25686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374369.8:c.1352_1354del (GDF5) MANE Select ENSP00000363489.3:p.Thr451_Leu452delinsMet
ENST00000374369.7:c.1352_1354del (GDF5) ENSP00000363489.3:p.Thr451_Leu452delinsMet
ENST00000374372.1:c.1352_1354del (GDF5) ENSP00000363492.1:p.Thr451_Leu452delinsMet
ENST00000374375.1:c.-98_-96del (GDF5-AS1) ENSP00000363495.1:n.-98_-96del
NM_000557.4:c.1352_1354del (GDF5) NP_000548.2:p.Thr451_Leu452delinsMet
XM_011529075.1:c.1352_1354del (GDF5) XP_011527377.1:p.Thr451_Leu452delinsMet
XM_011529076.1:c.1352_1354del (GDF5) XP_011527378.1:p.Thr451_Leu452delinsMet
NM_001319138.1:c.1352_1354del (GDF5) NP_001306067.1:p.Thr451_Leu452delinsMet
NM_001355428.1:c.-98_-96del (GDF5-AS1) NP_001342357.1:n.-98_-96del
NM_000557.5:c.1352_1354del (GDF5) MANE Select NP_000548.2:p.Thr451_Leu452delinsMet
NM_001319138.2:c.1352_1354del (GDF5) NP_001306067.1:p.Thr451_Leu452delinsMet
NR_161326.1:n.345_347del (GDF5-AS1)