Canonical Allele Identifier: CA2652618094
Gene: GDF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438204_35438206del , CM000682.2:g.35438204_35438206del GRCh38
NC_000020.10:g.34025984_34025986del , CM000682.1:g.34025984_34025986del GRCh37
NC_000020.9:g.33489398_33489400del NCBI36
NG_008076.2:g.5014_5016del
NG_008076.3:g.21541_21543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374369.8:c.-278_-276del MANE Select ENSP00000363489.3:n.-278_-276del
ENST00000374369.7:c.-278_-276del ENSP00000363489.3:n.-278_-276del
ENST00000374372.1:c.-241-37_-241-35del ENSP00000363492.1:n.-241-37_-241-35del
XM_011529075.1:c.-241-37_-241-35del XP_011527377.1:n.-241-37_-241-35del
XM_011529076.1:c.-241-37_-241-35del XP_011527378.1:n.-241-37_-241-35del
NM_001319138.1:c.-241-37_-241-35del NP_001306067.1:n.-241-37_-241-35del
NM_000557.5:c.-278_-276del MANE Select NP_000548.2:n.-278_-276del
NM_001319138.2:c.-241-37_-241-35del NP_001306067.1:n.-241-37_-241-35del