Canonical Allele Identifier: CA2361651056
Gene: GDF5 HGNC NCBI

Linked Data

dbSNP Id: rs2062482714
gnomAD v4: 20-35438036-CAGCAGCAGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438045_35438053del , CM000682.2:g.35438045_35438053del GRCh38
NC_000020.10:g.34025825_34025833del , CM000682.1:g.34025825_34025833del GRCh37
NC_000020.9:g.33489239_33489247del NCBI36
NG_008076.2:g.5175_5183del
NG_008076.3:g.21702_21710del

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-117_-109del MANE Select ENSP00000363489.3:n.-117_-109del
ENST00000374369.7:c.-117_-109del ENSP00000363489.3:n.-117_-109del
ENST00000374372.1:c.-117_-109del ENSP00000363492.1:n.-117_-109del
NM_000557.4:c.-117_-109del NP_000548.2:n.-117_-109del
XM_011529075.1:c.-117_-109del XP_011527377.1:n.-117_-109del
XM_011529076.1:c.-117_-109del XP_011527378.1:n.-117_-109del
NM_001319138.1:c.-117_-109del NP_001306067.1:n.-117_-109del
NM_000557.5:c.-117_-109del MANE Select NP_000548.2:n.-117_-109del
NM_001319138.2:c.-117_-109del NP_001306067.1:n.-117_-109del
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