Canonical Allele Identifier: CA2361649273
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2062456132

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434046_35434047insGC , CM000682.2:g.35434046_35434047insGC GRCh38
NC_000020.10:g.34021844_34021845insGC , CM000682.1:g.34021844_34021845insGC GRCh37
NC_000020.9:g.33485258_33485259insGC NCBI36
NG_008076.2:g.9174_9175insCG
NG_008076.3:g.25701_25702insCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374369.8:c.1369_1370insCG (GDF5) MANE Select ENSP00000363489.3:p.Asp457AlafsTer16
ENST00000374369.7:c.1369_1370insCG (GDF5) ENSP00000363489.3:p.Asp457AlafsTer16
ENST00000374372.1:c.1369_1370insCG (GDF5) ENSP00000363492.1:p.Asp457AlafsTer16
ENST00000374375.1:c.-113_-112insGC (GDF5-AS1) ENSP00000363495.1:n.-113_-112insGC
NM_000557.4:c.1369_1370insCG (GDF5) NP_000548.2:p.Asp457AlafsTer16
XM_011529075.1:c.1369_1370insCG (GDF5) XP_011527377.1:p.Asp457AlafsTer16
XM_011529076.1:c.1369_1370insCG (GDF5) XP_011527378.1:p.Asp457AlafsTer16
NM_001319138.1:c.1369_1370insCG (GDF5) NP_001306067.1:p.Asp457AlafsTer16
NM_001355428.1:c.-113_-112insGC (GDF5-AS1) NP_001342357.1:n.-113_-112insGC
NM_000557.5:c.1369_1370insCG (GDF5) MANE Select NP_000548.2:p.Asp457AlafsTer16
NM_001319138.2:c.1369_1370insCG (GDF5) NP_001306067.1:p.Asp457AlafsTer16
NR_161326.1:n.330_331insGC (GDF5-AS1)