Canonical Allele Identifier: CA2652618549

Gene: GDF5

Linked Data

• gnomAD v4: 20-35438363-C-CACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438366_35438367insAACA , CM000682.2:g.35438366_35438367insAACA	GRCh38
NC_000020.10:g.34026158_34026159insAACA , CM000682.1:g.34026158_34026159insAACA	GRCh37
NC_000020.9:g.33489572_33489573insAACA	NCBI36
NG_008076.2:g.4856_4857insTTGT
NG_008076.3:g.21383_21384insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-195_-241-194insTTGT	ENSP00000363492.1:n.-241-195_-241-194insTTGT
XM_011529075.1:c.-241-195_-241-194insTTGT	XP_011527377.1:n.-241-195_-241-194insTTGT
XM_011529076.1:c.-241-195_-241-194insTTGT	XP_011527378.1:n.-241-195_-241-194insTTGT
NM_001319138.1:c.-241-195_-241-194insTTGT	NP_001306067.1:n.-241-195_-241-194insTTGT
NM_001319138.2:c.-241-195_-241-194insTTGT	NP_001306067.1:n.-241-195_-241-194insTTGT