Canonical Allele Identifier: CA1883397656

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843373_134843379delinsGCTCTCT , CM000671.2:g.134843373_134843379delinsGCTCTCT	GRCh38
NC_000009.11:g.137735219_137735225delinsGCTCTCT , CM000671.1:g.137735219_137735225delinsGCTCTCT	GRCh37
NC_000009.10:g.136875040_136875046delinsGCTCTCT	NCBI36
NG_008030.1:g.206568_206574delinsGCTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1070_*1076delinsGCTCTCT	ENSP00000360885.4:n.*1070_*1076delinsGCTCTCT
ENST00000371817.8:c.*1070_*1076delinsGCTCTCT MANE Select	ENSP00000360882.3:n.*1070_*1076delinsGCTCTCT
ENST00000371817.7:c.*1070_*1076delinsGCTCTCT	ENSP00000360882.3:n.*1070_*1076delinsGCTCTCT
ENST00000618395.4:c.*1070_*1076delinsGCTCTCT	ENSP00000481360.1:n.*1070_*1076delinsGCTCTCT
NM_000093.4:c.*1070_*1076delinsGCTCTCT	NP_000084.3:n.*1070_*1076delinsGCTCTCT
NM_001278074.1:c.*1070_*1076delinsGCTCTCT	NP_001265003.1:n.*1070_*1076delinsGCTCTCT
NR_103451.2:n.71-23170_71-23164delinsAGAGAGC
NM_000093.5:c.*1070_*1076delinsGCTCTCT MANE Select	NP_000084.3:n.*1070_*1076delinsGCTCTCT