Canonical Allele Identifier: CA743890918

Gene: GDF5

Linked Data

• ClinVar Variation Id: 1268421
• ClinVar RCV Id: RCV001685747
• dbSNP Id: rs3055779
• gnomAD v3: 20-35438358-T-TCACACACA
• gnomAD v4: 20-35438358-T-TCACACACA
• MyVariant Identifiers: chr20:g.35438358_35438359insCACACACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438384_35438391dup , CM000682.2:g.35438384_35438391dup	GRCh38
NC_000020.10:g.34026176_34026183dup , CM000682.1:g.34026176_34026183dup	GRCh37
NC_000020.9:g.33489590_33489597dup	NCBI36
NG_008076.2:g.4854_4861dup
NG_008076.3:g.21381_21388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-197_-241-190dup	ENSP00000363492.1:n.-241-197_-241-190dup
XM_011529075.1:c.-241-197_-241-190dup	XP_011527377.1:n.-241-197_-241-190dup
XM_011529076.1:c.-241-197_-241-190dup	XP_011527378.1:n.-241-197_-241-190dup
NM_001319138.1:c.-241-197_-241-190dup	NP_001306067.1:n.-241-197_-241-190dup
NM_001319138.2:c.-241-197_-241-190dup	NP_001306067.1:n.-241-197_-241-190dup