Canonical Allele Identifier: CA2361651157

Gene: GDF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438262_35438274delinsGAGGGATTTTTCC , CM000682.2:g.35438262_35438274delinsGAGGGATTTTTCC	GRCh38
NC_000020.10:g.34026042_34026054delinsGAGGGATTTTTCC , CM000682.1:g.34026042_34026054delinsGAGGGATTTTTCC	GRCh37
NC_000020.9:g.33489456_33489468delinsGAGGGATTTTTCC	NCBI36
NG_008076.2:g.4946_4958delinsGGAAAAATCCCTC
NG_008076.3:g.21473_21485delinsGGAAAAATCCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374372.1:c.-241-105_-241-93delinsGGAAAAATCCCTC	ENSP00000363492.1:n.-241-105_-241-93delinsGGAAAAATCCCTC
XM_011529075.1:c.-241-105_-241-93delinsGGAAAAATCCCTC	XP_011527377.1:n.-241-105_-241-93delinsGGAAAAATCCCTC
XM_011529076.1:c.-241-105_-241-93delinsGGAAAAATCCCTC	XP_011527378.1:n.-241-105_-241-93delinsGGAAAAATCCCTC
NM_001319138.1:c.-241-105_-241-93delinsGGAAAAATCCCTC	NP_001306067.1:n.-241-105_-241-93delinsGGAAAAATCCCTC
NM_001319138.2:c.-241-105_-241-93delinsGGAAAAATCCCTC	NP_001306067.1:n.-241-105_-241-93delinsGGAAAAATCCCTC