Canonical Allele Identifier: CA2652617723
Gene: GDF5 HGNC NCBI

Linked Data

gnomAD v4: 20-35437962-ACAGCGGCAGCAGCGAAGGTGCCTCTGGTTTGGCAGGAAAAACCATGAAAGGAGTGGACTTTCAAAAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35437976_35438042del , CM000682.2:g.35437976_35438042del GRCh38
NG_008076.2:g.5191_5257del
NG_008076.3:g.21718_21784del

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-101_-35del MANE Select ENSP00000363489.3:n.-101_-35del
ENST00000374369.7:c.-101_-35del ENSP00000363489.3:n.-101_-35del
ENST00000374372.1:c.-101_-35del ENSP00000363492.1:n.-101_-35del
NM_000557.4:c.-101_-35del NP_000548.2:n.-101_-35del
XM_011529075.1:c.-101_-35del XP_011527377.1:n.-101_-35del
XM_011529076.1:c.-101_-35del XP_011527378.1:n.-101_-35del
NM_001319138.1:c.-101_-35del NP_001306067.1:n.-101_-35del
NM_000557.5:c.-101_-35del MANE Select NP_000548.2:n.-101_-35del
NM_001319138.2:c.-101_-35del NP_001306067.1:n.-101_-35del
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