Canonical Allele Identifier: CA1017205228

Gene: GDF5

Linked Data

• dbSNP Id: rs2062484746
• gnomAD v3: 20-35438380-A-ACACACACT
• gnomAD v4: 20-35438380-A-ACACACACT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438387_35438388insTCACACAC , CM000682.2:g.35438387_35438388insTCACACAC	GRCh38
NC_000020.10:g.34026179_34026180insTCACACAC , CM000682.1:g.34026179_34026180insTCACACAC	GRCh37
NC_000020.9:g.33489593_33489594insTCACACAC	NCBI36
NG_008076.2:g.4839_4840insAGTGTGTG
NG_008076.3:g.21366_21367insAGTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-212_-241-211insAGTGTGTG	ENSP00000363492.1:n.-241-212_-241-211insAGTGTGTG
XM_011529075.1:c.-241-212_-241-211insAGTGTGTG	XP_011527377.1:n.-241-212_-241-211insAGTGTGTG
XM_011529076.1:c.-241-212_-241-211insAGTGTGTG	XP_011527378.1:n.-241-212_-241-211insAGTGTGTG
NM_001319138.1:c.-241-212_-241-211insAGTGTGTG	NP_001306067.1:n.-241-212_-241-211insAGTGTGTG
NM_001319138.2:c.-241-212_-241-211insAGTGTGTG	NP_001306067.1:n.-241-212_-241-211insAGTGTGTG