Canonical Allele Identifier: CA2652616240

Gene: GDF5 GDF5-AS1

Linked Data

• gnomAD v4: 20-35433971-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35433974_35433975del , CM000682.2:g.35433974_35433975del	GRCh38
NC_000020.10:g.34021772_34021773del , CM000682.1:g.34021772_34021773del	GRCh37
NC_000020.9:g.33485186_33485187del	NCBI36
NG_008076.2:g.9247_9248del
NG_008076.3:g.25774_25775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.1442_1443del (GDF5) MANE Select	ENSP00000363489.3:p.Ser481CysfsTer7
ENST00000374369.7:c.1442_1443del (GDF5)	ENSP00000363489.3:p.Ser481CysfsTer7
ENST00000374372.1:c.1442_1443del (GDF5)	ENSP00000363492.1:p.Ser481CysfsTer7
ENST00000374375.1:c.-185_-184del (GDF5-AS1)	ENSP00000363495.1:n.-185_-184del
NM_000557.4:c.1442_1443del (GDF5)	NP_000548.2:p.Ser481CysfsTer7
XM_011529075.1:c.1442_1443del (GDF5)	XP_011527377.1:p.Ser481CysfsTer7
XM_011529076.1:c.1442_1443del (GDF5)	XP_011527378.1:p.Ser481CysfsTer7
NM_001319138.1:c.1442_1443del (GDF5)	NP_001306067.1:p.Ser481CysfsTer7
NM_001355428.1:c.-185_-184del (GDF5-AS1)	NP_001342357.1:n.-185_-184del
NM_000557.5:c.1442_1443del (GDF5) MANE Select	NP_000548.2:p.Ser481CysfsTer7
NM_001319138.2:c.1442_1443del (GDF5)	NP_001306067.1:p.Ser481CysfsTer7
NR_161326.1:n.258_259del (GDF5-AS1)