Canonical Allele Identifier: CA2652617881
Gene: GDF5 HGNC NCBI

Linked Data

gnomAD v4: 20-35438039-C-CAGCAGT
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438045_35438050dup , CM000682.2:g.35438045_35438050dup GRCh38
NC_000020.10:g.34025825_34025830dup , CM000682.1:g.34025825_34025830dup GRCh37
NC_000020.9:g.33489239_33489244dup NCBI36
NG_008076.2:g.5175_5180dup
NG_008076.3:g.21702_21707dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-117_-112dup MANE Select ENSP00000363489.3:n.-117_-112dup
ENST00000374369.7:c.-117_-112dup ENSP00000363489.3:n.-117_-112dup
ENST00000374372.1:c.-117_-112dup ENSP00000363492.1:n.-117_-112dup
NM_000557.4:c.-117_-112dup NP_000548.2:n.-117_-112dup
XM_011529075.1:c.-117_-112dup XP_011527377.1:n.-117_-112dup
XM_011529076.1:c.-117_-112dup XP_011527378.1:n.-117_-112dup
NM_001319138.1:c.-117_-112dup NP_001306067.1:n.-117_-112dup
NM_000557.5:c.-117_-112dup MANE Select NP_000548.2:n.-117_-112dup
NM_001319138.2:c.-117_-112dup NP_001306067.1:n.-117_-112dup
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