Canonical Allele Identifier: CA2652618100

Gene: GDF5

Linked Data

• gnomAD v4: 20-35438205-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438207_35438208del , CM000682.2:g.35438207_35438208del	GRCh38
NC_000020.10:g.34025987_34025988del , CM000682.1:g.34025987_34025988del	GRCh37
NC_000020.9:g.33489401_33489402del	NCBI36
NG_008076.2:g.5013_5014del
NG_008076.3:g.21540_21541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.-279_-278del MANE Select	ENSP00000363489.3:n.-279_-278del
ENST00000374369.7:c.-279_-278del	ENSP00000363489.3:n.-279_-278del
ENST00000374372.1:c.-241-38_-241-37del	ENSP00000363492.1:n.-241-38_-241-37del
XM_011529075.1:c.-241-38_-241-37del	XP_011527377.1:n.-241-38_-241-37del
XM_011529076.1:c.-241-38_-241-37del	XP_011527378.1:n.-241-38_-241-37del
NM_001319138.1:c.-241-38_-241-37del	NP_001306067.1:n.-241-38_-241-37del
NM_000557.5:c.-279_-278del MANE Select	NP_000548.2:n.-279_-278del
NM_001319138.2:c.-241-38_-241-37del	NP_001306067.1:n.-241-38_-241-37del