Canonical Allele Identifier: CA2652618051

Gene: GDF5

Linked Data

• gnomAD v4: 20-35438189-G-GGAAAAATCCCTCAGCCTTATACAAGCCTCCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35438189_35438190insGAAAAATCCCTCAGCCTTATACAAGCCTCCTTC , CM000682.2:g.35438189_35438190insGAAAAATCCCTCAGCCTTATACAAGCCTCCTTC	GRCh38
NC_000020.10:g.34025969_34025970insGAAAAATCCCTCAGCCTTATACAAGCCTCCTTC , CM000682.1:g.34025969_34025970insGAAAAATCCCTCAGCCTTATACAAGCCTCCTTC	GRCh37
NC_000020.9:g.33489383_33489384insGAAAAATCCCTCAGCCTTATACAAGCCTCCTTC	NCBI36
NG_008076.2:g.5030_5031insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC
NG_008076.3:g.21557_21558insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374369.8:c.-262_-261insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC MANE Select	ENSP00000363489.3:n.-262_-261insGAAGGAGGCTTGTATAAGGCTGAGGGATT...
ENST00000374369.7:c.-262_-261insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC	ENSP00000363489.3:n.-262_-261insGAAGGAGGCTTGTATAAGGCTGAGGGATT...
ENST00000374372.1:c.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC	ENSP00000363492.1:n.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGA...
NM_000557.4:c.-262_-261insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC	NP_000548.2:n.-262_-261insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC
XM_011529075.1:c.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC	XP_011527377.1:n.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGAGGG...
XM_011529076.1:c.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC	XP_011527378.1:n.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGAGGG...
NM_001319138.1:c.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC	NP_001306067.1:n.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGAGGG...
NM_000557.5:c.-262_-261insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC MANE Select	NP_000548.2:n.-262_-261insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC
NM_001319138.2:c.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTC	NP_001306067.1:n.-241-21_-241-20insGAAGGAGGCTTGTATAAGGCTGAGGG...