Canonical Allele Identifier: CA2652617891
Gene: GDF5 HGNC NCBI

Linked Data

gnomAD v4: 20-35438045-TAGC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35438051_35438053del , CM000682.2:g.35438051_35438053del GRCh38
NC_000020.10:g.34025831_34025833del , CM000682.1:g.34025831_34025833del GRCh37
NC_000020.9:g.33489245_33489247del NCBI36
NG_008076.2:g.5172_5174del
NG_008076.3:g.21699_21701del

Transcript Alleles

HGVS Amino-acid change
ENST00000374369.8:c.-120_-118del MANE Select ENSP00000363489.3:n.-120_-118del
ENST00000374369.7:c.-120_-118del ENSP00000363489.3:n.-120_-118del
ENST00000374372.1:c.-120_-118del ENSP00000363492.1:n.-120_-118del
NM_000557.4:c.-120_-118del NP_000548.2:n.-120_-118del
XM_011529075.1:c.-120_-118del XP_011527377.1:n.-120_-118del
XM_011529076.1:c.-120_-118del XP_011527378.1:n.-120_-118del
NM_001319138.1:c.-120_-118del NP_001306067.1:n.-120_-118del
NM_000557.5:c.-120_-118del MANE Select NP_000548.2:n.-120_-118del
NM_001319138.2:c.-120_-118del NP_001306067.1:n.-120_-118del
Search 100 bp 5'
Search 100 bp 3'