Canonical Allele Identifier: CA1883397684

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843391_134843392delinsCT , CM000671.2:g.134843391_134843392delinsCT	GRCh38
NC_000009.11:g.137735237_137735238delinsCT , CM000671.1:g.137735237_137735238delinsCT	GRCh37
NC_000009.10:g.136875058_136875059delinsCT	NCBI36
NG_008030.1:g.206586_206587delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1088_*1089delinsCT	ENSP00000360885.4:n.*1088_*1089delinsCT
ENST00000371817.8:c.*1088_*1089delinsCT MANE Select	ENSP00000360882.3:n.*1088_*1089delinsCT
ENST00000371817.7:c.*1088_*1089delinsCT	ENSP00000360882.3:n.*1088_*1089delinsCT
ENST00000618395.4:c.*1088_*1089delinsCT	ENSP00000481360.1:n.*1088_*1089delinsCT
NM_000093.4:c.*1088_*1089delinsCT	NP_000084.3:n.*1088_*1089delinsCT
NM_001278074.1:c.*1088_*1089delinsCT	NP_001265003.1:n.*1088_*1089delinsCT
NR_103451.2:n.71-23183_71-23182delinsAG
NM_000093.5:c.*1088_*1089delinsCT MANE Select	NP_000084.3:n.*1088_*1089delinsCT