Canonical Allele Identifier: CA2592078330

Gene: GDF5

Linked Data

• gnomAD v3: 20-35438384-A-ACACACACACACT
• gnomAD v4: 20-35438384-A-ACACACACACACT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438391_35438392insACACTCACACAC , CM000682.2:g.35438391_35438392insACACTCACACAC	GRCh38
NC_000020.10:g.34026183_34026184insACACTCACACAC , CM000682.1:g.34026183_34026184insACACTCACACAC	GRCh37
NC_000020.9:g.33489597_33489598insACACTCACACAC	NCBI36
NG_008076.2:g.4835_4836insAGTGTGTGTGTG
NG_008076.3:g.21362_21363insAGTGTGTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-216_-241-215insAGTGTGTGTGTG	ENSP00000363492.1:n.-241-216_-241-215insAGTGTGTGTGTG
XM_011529075.1:c.-241-216_-241-215insAGTGTGTGTGTG	XP_011527377.1:n.-241-216_-241-215insAGTGTGTGTGTG
XM_011529076.1:c.-241-216_-241-215insAGTGTGTGTGTG	XP_011527378.1:n.-241-216_-241-215insAGTGTGTGTGTG
NM_001319138.1:c.-241-216_-241-215insAGTGTGTGTGTG	NP_001306067.1:n.-241-216_-241-215insAGTGTGTGTGTG
NM_001319138.2:c.-241-216_-241-215insAGTGTGTGTGTG	NP_001306067.1:n.-241-216_-241-215insAGTGTGTGTGTG