Canonical Allele Identifier: CA743890686

Gene: GDF5

Linked Data

• dbSNP Id: rs1275459958
• gnomAD v3: 20-35437989-GT-G
• gnomAD v4: 20-35437989-GT-G
• MyVariant Identifiers: chr20:g.34025770del (hg19) ; chr20:g.35437990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35437992del , CM000682.2:g.35437992del	GRCh38
NC_000020.10:g.34025772del , CM000682.1:g.34025772del	GRCh37
NC_000020.9:g.33489186del	NCBI36
NG_008076.2:g.5230del
NG_008076.3:g.21757del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374369.8:c.-62del MANE Select	ENSP00000363489.3:n.-62del
ENST00000374369.7:c.-62del	ENSP00000363489.3:n.-62del
ENST00000374372.1:c.-62del	ENSP00000363492.1:n.-62del
NM_000557.4:c.-62del	NP_000548.2:n.-62del
XM_011529075.1:c.-62del	XP_011527377.1:n.-62del
XM_011529076.1:c.-62del	XP_011527378.1:n.-62del
NM_001319138.1:c.-62del	NP_001306067.1:n.-62del
NM_000557.5:c.-62del MANE Select	NP_000548.2:n.-62del
NM_001319138.2:c.-62del	NP_001306067.1:n.-62del