Canonical Allele Identifier: CA1883397657

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843374_134843389delinsCTCTCTTGTGGTGCTA , CM000671.2:g.134843374_134843389delinsCTCTCTTGTGGTGCTA	GRCh38
NC_000009.11:g.137735220_137735235delinsCTCTCTTGTGGTGCTA , CM000671.1:g.137735220_137735235delinsCTCTCTTGTGGTGCTA	GRCh37
NC_000009.10:g.136875041_136875056delinsCTCTCTTGTGGTGCTA	NCBI36
NG_008030.1:g.206569_206584delinsCTCTCTTGTGGTGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1071_*1086delinsCTCTCTTGTGGTGCTA	ENSP00000360885.4:n.*1071_*1086delinsCTCTCTTGTGGTGCTA
ENST00000371817.8:c.*1071_*1086delinsCTCTCTTGTGGTGCTA MANE Select	ENSP00000360882.3:n.*1071_*1086delinsCTCTCTTGTGGTGCTA
ENST00000371817.7:c.*1071_*1086delinsCTCTCTTGTGGTGCTA	ENSP00000360882.3:n.*1071_*1086delinsCTCTCTTGTGGTGCTA
ENST00000618395.4:c.*1071_*1086delinsCTCTCTTGTGGTGCTA	ENSP00000481360.1:n.*1071_*1086delinsCTCTCTTGTGGTGCTA
NM_000093.4:c.*1071_*1086delinsCTCTCTTGTGGTGCTA	NP_000084.3:n.*1071_*1086delinsCTCTCTTGTGGTGCTA
NM_001278074.1:c.*1071_*1086delinsCTCTCTTGTGGTGCTA	NP_001265003.1:n.*1071_*1086delinsCTCTCTTGTGGTGCTA
NR_103451.2:n.71-23180_71-23165delinsTAGCACCACAAGAGAG
NM_000093.5:c.*1071_*1086delinsCTCTCTTGTGGTGCTA MANE Select	NP_000084.3:n.*1071_*1086delinsCTCTCTTGTGGTGCTA