Canonical Allele Identifier: CA743905914
Gene: GDF5 HGNC NCBI
GDF5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1487045748
gnomAD v3: 20-35434297-AG-A
gnomAD v4: 20-35434297-AG-A
MyVariant Identifiers: chr20:g.34022096del (hg19) chr20:g.35434298del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434299del , CM000682.2:g.35434299del GRCh38
NC_000020.10:g.34022097del , CM000682.1:g.34022097del GRCh37
NC_000020.9:g.33485511del NCBI36
NG_008076.2:g.8922del
NG_008076.3:g.25449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374369.8:c.1117del (GDF5) MANE Select ENSP00000363489.3:p.Leu373CysfsTer?
ENST00000374369.7:c.1117del (GDF5) ENSP00000363489.3:p.Leu373CysfsTer?
ENST00000374372.1:c.1117del (GDF5) ENSP00000363492.1:p.Leu373CysfsTer?
ENST00000374375.1:c.141del (GDF5-AS1) ENSP00000363495.1:p.Arg47SerfsTer15
NM_000557.4:c.1117del (GDF5) NP_000548.2:p.Leu373CysfsTer?
XM_011529075.1:c.1117del (GDF5) XP_011527377.1:p.Leu373CysfsTer?
XM_011529076.1:c.1117del (GDF5) XP_011527378.1:p.Leu373CysfsTer?
NM_001319138.1:c.1117del (GDF5) NP_001306067.1:p.Leu373CysfsTer?
NM_001355428.1:c.141del (GDF5-AS1) NP_001342357.1:p.Arg47SerfsTer15
NM_000557.5:c.1117del (GDF5) MANE Select NP_000548.2:p.Leu373CysfsTer?
NM_001319138.2:c.1117del (GDF5) NP_001306067.1:p.Leu373CysfsTer?
NR_161326.1:n.583del (GDF5-AS1)
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