Canonical Allele Identifier: CA2361649270

Gene: GDF5 GDF5-AS1

Linked Data

• dbSNP Id: rs2062456026

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35434042_35434043insT , CM000682.2:g.35434042_35434043insT	GRCh38
NC_000020.10:g.34021840_34021841insT , CM000682.1:g.34021840_34021841insT	GRCh37
NC_000020.9:g.33485254_33485255insT	NCBI36
NG_008076.2:g.9177_9178insA
NG_008076.3:g.25704_25705insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.1372_1373insA (GDF5) MANE Select	ENSP00000363489.3:p.Pro458HisfsTer23
ENST00000374369.7:c.1372_1373insA (GDF5)	ENSP00000363489.3:p.Pro458HisfsTer23
ENST00000374372.1:c.1372_1373insA (GDF5)	ENSP00000363492.1:p.Pro458HisfsTer23
ENST00000374375.1:c.-117_-116insT (GDF5-AS1)	ENSP00000363495.1:n.-117_-116insT
NM_000557.4:c.1372_1373insA (GDF5)	NP_000548.2:p.Pro458HisfsTer23
XM_011529075.1:c.1372_1373insA (GDF5)	XP_011527377.1:p.Pro458HisfsTer23
XM_011529076.1:c.1372_1373insA (GDF5)	XP_011527378.1:p.Pro458HisfsTer23
NM_001319138.1:c.1372_1373insA (GDF5)	NP_001306067.1:p.Pro458HisfsTer23
NM_001355428.1:c.-117_-116insT (GDF5-AS1)	NP_001342357.1:n.-117_-116insT
NM_000557.5:c.1372_1373insA (GDF5) MANE Select	NP_000548.2:p.Pro458HisfsTer23
NM_001319138.2:c.1372_1373insA (GDF5)	NP_001306067.1:p.Pro458HisfsTer23
NR_161326.1:n.326_327insT (GDF5-AS1)