Canonical Allele Identifier: CA1883397476

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843155_134843164delinsCTTTTTTTTT , CM000671.2:g.134843155_134843164delinsCTTTTTTTTT	GRCh38
NC_000009.11:g.137735001_137735010delinsCTTTTTTTTT , CM000671.1:g.137735001_137735010delinsCTTTTTTTTT	GRCh37
NC_000009.10:g.136874822_136874831delinsCTTTTTTTTT	NCBI36
NG_008030.1:g.206350_206359delinsCTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*852_*861delinsCTTTTTTTTT	ENSP00000360885.4:n.*852_*861delinsCTTTTTTTTT
ENST00000371817.8:c.*852_*861delinsCTTTTTTTTT MANE Select	ENSP00000360882.3:n.*852_*861delinsCTTTTTTTTT
ENST00000371817.7:c.*852_*861delinsCTTTTTTTTT	ENSP00000360882.3:n.*852_*861delinsCTTTTTTTTT
ENST00000618395.4:c.*852_*861delinsCTTTTTTTTT	ENSP00000481360.1:n.*852_*861delinsCTTTTTTTTT
NM_000093.4:c.*852_*861delinsCTTTTTTTTT	NP_000084.3:n.*852_*861delinsCTTTTTTTTT
NM_001278074.1:c.*852_*861delinsCTTTTTTTTT	NP_001265003.1:n.*852_*861delinsCTTTTTTTTT
NR_103451.2:n.71-22955_71-22946delinsAAAAAAAAAG
NM_000093.5:c.*852_*861delinsCTTTTTTTTT MANE Select	NP_000084.3:n.*852_*861delinsCTTTTTTTTT