Canonical Allele Identifier: CA743890852

Gene: GDF5

Linked Data

• dbSNP Id: rs1432062546
• gnomAD v3: 20-35438262-GAGGGATTTTTCC-G
• gnomAD v4: 20-35438262-GAGGGATTTTTCC-G
• MyVariant Identifiers: chr20:g.34026043_34026054del (hg19) ; chr20:g.35438263_35438274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438264_35438275del , CM000682.2:g.35438264_35438275del	GRCh38
NC_000020.10:g.34026044_34026055del , CM000682.1:g.34026044_34026055del	GRCh37
NC_000020.9:g.33489458_33489469del	NCBI36
NG_008076.2:g.4946_4957del
NG_008076.3:g.21473_21484del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374372.1:c.-241-105_-241-94del	ENSP00000363492.1:n.-241-105_-241-94del
XM_011529075.1:c.-241-105_-241-94del	XP_011527377.1:n.-241-105_-241-94del
XM_011529076.1:c.-241-105_-241-94del	XP_011527378.1:n.-241-105_-241-94del
NM_001319138.1:c.-241-105_-241-94del	NP_001306067.1:n.-241-105_-241-94del
NM_001319138.2:c.-241-105_-241-94del	NP_001306067.1:n.-241-105_-241-94del