Canonical Allele Identifier: CA743890878

Gene: GDF5

Linked Data

• dbSNP Id: rs1224195321
• gnomAD v3: 20-35438322-TC-T
• gnomAD v4: 20-35438322-TC-T
• MyVariant Identifiers: chr20:g.34026103del (hg19) ; chr20:g.35438323del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438327del , CM000682.2:g.35438327del	GRCh38
NC_000020.10:g.34026107del , CM000682.1:g.34026107del	GRCh37
NC_000020.9:g.33489521del	NCBI36
NG_008076.2:g.4897del
NG_008076.3:g.21424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-154del	ENSP00000363492.1:n.-241-154del
XM_011529075.1:c.-241-154del	XP_011527377.1:n.-241-154del
XM_011529076.1:c.-241-154del	XP_011527378.1:n.-241-154del
NM_001319138.1:c.-241-154del	NP_001306067.1:n.-241-154del
NM_001319138.2:c.-241-154del	NP_001306067.1:n.-241-154del