Canonical Allele Identifier: CA1017205210

Gene: GDF5

Linked Data

• dbSNP Id: rs2062484663
• gnomAD v3: 20-35438370-A-ACACACACACC
• gnomAD v4: 20-35438370-A-ACACACACACC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438379_35438380insCCACACACAC , CM000682.2:g.35438379_35438380insCCACACACAC	GRCh38
NC_000020.10:g.34026171_34026172insCCACACACAC , CM000682.1:g.34026171_34026172insCCACACACAC	GRCh37
NC_000020.9:g.33489585_33489586insCCACACACAC	NCBI36
NG_008076.2:g.4849_4850insGGTGTGTGTG
NG_008076.3:g.21376_21377insGGTGTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-202_-241-201insGGTGTGTGTG	ENSP00000363492.1:n.-241-202_-241-201insGGTGTGTGTG
XM_011529075.1:c.-241-202_-241-201insGGTGTGTGTG	XP_011527377.1:n.-241-202_-241-201insGGTGTGTGTG
XM_011529076.1:c.-241-202_-241-201insGGTGTGTGTG	XP_011527378.1:n.-241-202_-241-201insGGTGTGTGTG
NM_001319138.1:c.-241-202_-241-201insGGTGTGTGTG	NP_001306067.1:n.-241-202_-241-201insGGTGTGTGTG
NM_001319138.2:c.-241-202_-241-201insGGTGTGTGTG	NP_001306067.1:n.-241-202_-241-201insGGTGTGTGTG