Canonical Allele Identifier: CA2652616242

Gene: GDF5 GDF5-AS1

Linked Data

• gnomAD v4: 20-35434286-G-GCTGGCTGAACAGGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434289_35434303dup , CM000682.2:g.35434289_35434303dup	GRCh38
NC_000020.10:g.34022087_34022101dup , CM000682.1:g.34022087_34022101dup	GRCh37
NC_000020.9:g.33485501_33485515dup	NCBI36
NG_008076.2:g.8919_8933dup
NG_008076.3:g.25446_25460dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.1114_1128dup (GDF5) MANE Select	ENSP00000363489.3:p.Gln376_Arg377insTyrLeuPheSerGln
ENST00000374369.7:c.1114_1128dup (GDF5)	ENSP00000363489.3:p.Gln376_Arg377insTyrLeuPheSerGln
ENST00000374372.1:c.1114_1128dup (GDF5)	ENSP00000363492.1:p.Gln376_Arg377insTyrLeuPheSerGln
ENST00000374375.1:c.131_145dup (GDF5-AS1)	ENSP00000363495.1:p.Tyr48_Ser49insTrpLeuAsnArgTyr
NM_000557.4:c.1114_1128dup (GDF5)	NP_000548.2:p.Gln376_Arg377insTyrLeuPheSerGln
XM_011529075.1:c.1114_1128dup (GDF5)	XP_011527377.1:p.Gln376_Arg377insTyrLeuPheSerGln
XM_011529076.1:c.1114_1128dup (GDF5)	XP_011527378.1:p.Gln376_Arg377insTyrLeuPheSerGln
NM_001319138.1:c.1114_1128dup (GDF5)	NP_001306067.1:p.Gln376_Arg377insTyrLeuPheSerGln
NM_001355428.1:c.131_145dup (GDF5-AS1)	NP_001342357.1:p.Tyr48_Ser49insTrpLeuAsnArgTyr
NM_000557.5:c.1114_1128dup (GDF5) MANE Select	NP_000548.2:p.Gln376_Arg377insTyrLeuPheSerGln
NM_001319138.2:c.1114_1128dup (GDF5)	NP_001306067.1:p.Gln376_Arg377insTyrLeuPheSerGln
NR_161326.1:n.573_587dup (GDF5-AS1)