Canonical Allele Identifier: CA635351984

Gene: GDF5

Linked Data

• dbSNP Id: rs995974626
• gnomAD v2: 20-34026093-G-GT
• gnomAD v3: 20-35438313-G-GT
• gnomAD v4: 20-35438313-G-GT
• COSMIC: COSN23163488
• MyVariant Identifiers: chr20:g.34026094_34026095insT (hg19) ; chr20:g.34026093_34026094insT (hg19) ; chr20:g.35438314_35438315insT (hg38) ; chr20:g.35438313_35438314insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438322dup , CM000682.2:g.35438322dup	GRCh38
NC_000020.10:g.34026102dup , CM000682.1:g.34026102dup	GRCh37
NC_000020.9:g.33489516dup	NCBI36
NG_008076.2:g.4906dup
NG_008076.3:g.21433dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374372.1:c.-241-145dup	ENSP00000363492.1:n.-241-145dup
XM_011529075.1:c.-241-145dup	XP_011527377.1:n.-241-145dup
XM_011529076.1:c.-241-145dup	XP_011527378.1:n.-241-145dup
NM_001319138.1:c.-241-145dup	NP_001306067.1:n.-241-145dup
NM_001319138.2:c.-241-145dup	NP_001306067.1:n.-241-145dup