Canonical Allele Identifier: CA1017205202

Gene: GDF5

Linked Data

• dbSNP Id: rs2062484561
• gnomAD v3: 20-35438359-C-CACACACACAT
• gnomAD v4: 20-35438359-C-CACACACACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438368_35438369insTACACACACA , CM000682.2:g.35438368_35438369insTACACACACA	GRCh38
NC_000020.10:g.34026160_34026161insTACACACACA , CM000682.1:g.34026160_34026161insTACACACACA	GRCh37
NC_000020.9:g.33489574_33489575insTACACACACA	NCBI36
NG_008076.2:g.4860_4861insATGTGTGTGT
NG_008076.3:g.21387_21388insATGTGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-191_-241-190insATGTGTGTGT	ENSP00000363492.1:n.-241-191_-241-190insATGTGTGTGT
XM_011529075.1:c.-241-191_-241-190insATGTGTGTGT	XP_011527377.1:n.-241-191_-241-190insATGTGTGTGT
XM_011529076.1:c.-241-191_-241-190insATGTGTGTGT	XP_011527378.1:n.-241-191_-241-190insATGTGTGTGT
NM_001319138.1:c.-241-191_-241-190insATGTGTGTGT	NP_001306067.1:n.-241-191_-241-190insATGTGTGTGT
NM_001319138.2:c.-241-191_-241-190insATGTGTGTGT	NP_001306067.1:n.-241-191_-241-190insATGTGTGTGT