Canonical Allele Identifier: CA635351988

Gene: GDF5

Linked Data

• gnomAD v2: 20-34026152-ACACACACAC-A
• MyVariant Identifiers: chr20:g.34026153_34026161del (hg19) ; chr20:g.35438361_35438369del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438361_35438369del , CM000682.2:g.35438361_35438369del	GRCh38
NC_000020.10:g.34026153_34026161del , CM000682.1:g.34026153_34026161del	GRCh37
NC_000020.9:g.33489567_33489575del	NCBI36
NG_008076.2:g.4851_4859del
NG_008076.3:g.21378_21386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-200_-241-192del	ENSP00000363492.1:n.-241-200_-241-192del
XM_011529075.1:c.-241-200_-241-192del	XP_011527377.1:n.-241-200_-241-192del
XM_011529076.1:c.-241-200_-241-192del	XP_011527378.1:n.-241-200_-241-192del
NM_001319138.1:c.-241-200_-241-192del	NP_001306067.1:n.-241-200_-241-192del
NM_001319138.2:c.-241-200_-241-192del	NP_001306067.1:n.-241-200_-241-192del