Canonical Allele Identifier: CA743890945

Gene: GDF5

Linked Data

• dbSNP Id: rs1321844173
• gnomAD v3: 20-35438358-T-TCACTCACACACACA
• gnomAD v4: 20-35438358-T-TCACTCACACACACA
• MyVariant Identifiers: chr20:g.35438358_35438359insCACTCACACACACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438361_35438362insTCACACACACACAC , CM000682.2:g.35438361_35438362insTCACACACACACAC	GRCh38
NC_000020.10:g.34026153_34026154insTCACACACACACAC , CM000682.1:g.34026153_34026154insTCACACACACACAC	GRCh37
NC_000020.9:g.33489567_33489568insTCACACACACACAC	NCBI36
NG_008076.2:g.4861_4862insTGTGTGTGTGAGTG
NG_008076.3:g.21388_21389insTGTGTGTGTGAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-190_-241-189insTGTGTGTGTGAGTG	ENSP00000363492.1:n.-241-190_-241-189insTGTGTGTGTGAGTG
XM_011529075.1:c.-241-190_-241-189insTGTGTGTGTGAGTG	XP_011527377.1:n.-241-190_-241-189insTGTGTGTGTGAGTG
XM_011529076.1:c.-241-190_-241-189insTGTGTGTGTGAGTG	XP_011527378.1:n.-241-190_-241-189insTGTGTGTGTGAGTG
NM_001319138.1:c.-241-190_-241-189insTGTGTGTGTGAGTG	NP_001306067.1:n.-241-190_-241-189insTGTGTGTGTGAGTG
NM_001319138.2:c.-241-190_-241-189insTGTGTGTGTGAGTG	NP_001306067.1:n.-241-190_-241-189insTGTGTGTGTGAGTG