Canonical Allele Identifier: CA635351983

Gene: GDF5

Linked Data

• dbSNP Id: rs1555823616
• gnomAD v2: 20-34026090-CCA-C
• gnomAD v3: 20-35438310-CCA-C
• gnomAD v4: 20-35438310-CCA-C
• MyVariant Identifiers: chr20:g.34026091_34026092del (hg19) ; chr20:g.35438311_35438312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438311_35438312del , CM000682.2:g.35438311_35438312del	GRCh38
NC_000020.10:g.34026091_34026092del , CM000682.1:g.34026091_34026092del	GRCh37
NC_000020.9:g.33489505_33489506del	NCBI36
NG_008076.2:g.4908_4909del
NG_008076.3:g.21435_21436del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374372.1:c.-241-143_-241-142del	ENSP00000363492.1:n.-241-143_-241-142del
XM_011529075.1:c.-241-143_-241-142del	XP_011527377.1:n.-241-143_-241-142del
XM_011529076.1:c.-241-143_-241-142del	XP_011527378.1:n.-241-143_-241-142del
NM_001319138.1:c.-241-143_-241-142del	NP_001306067.1:n.-241-143_-241-142del
NM_001319138.2:c.-241-143_-241-142del	NP_001306067.1:n.-241-143_-241-142del