Canonical Allele Identifier: CA2652617822
Gene: GDF5 HGNC NCBI

Linked Data

gnomAD v4: 20-35438006-ATGAAAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438007_35438012del , CM000682.2:g.35438007_35438012del GRCh38
NC_000020.10:g.34025787_34025792del , CM000682.1:g.34025787_34025792del GRCh37
NC_000020.9:g.33489201_33489206del NCBI36
NG_008076.2:g.5208_5213del
NG_008076.3:g.21735_21740del

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-84_-79del MANE Select ENSP00000363489.3:n.-84_-79del
ENST00000374369.7:c.-84_-79del ENSP00000363489.3:n.-84_-79del
ENST00000374372.1:c.-84_-79del ENSP00000363492.1:n.-84_-79del
NM_000557.4:c.-84_-79del NP_000548.2:n.-84_-79del
XM_011529075.1:c.-84_-79del XP_011527377.1:n.-84_-79del
XM_011529076.1:c.-84_-79del XP_011527378.1:n.-84_-79del
NM_001319138.1:c.-84_-79del NP_001306067.1:n.-84_-79del
NM_000557.5:c.-84_-79del MANE Select NP_000548.2:n.-84_-79del
NM_001319138.2:c.-84_-79del NP_001306067.1:n.-84_-79del
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