Canonical Allele Identifier: CA1883397745

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843453_134843457delinsGCTTT , CM000671.2:g.134843453_134843457delinsGCTTT	GRCh38
NC_000009.11:g.137735299_137735303delinsGCTTT , CM000671.1:g.137735299_137735303delinsGCTTT	GRCh37
NC_000009.10:g.136875120_136875124delinsGCTTT	NCBI36
NG_008030.1:g.206648_206652delinsGCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1150_*1154delinsGCTTT	ENSP00000360885.4:n.*1150_*1154delinsGCTTT
ENST00000371817.8:c.*1150_*1154delinsGCTTT MANE Select	ENSP00000360882.3:n.*1150_*1154delinsGCTTT
ENST00000371817.7:c.*1150_*1154delinsGCTTT	ENSP00000360882.3:n.*1150_*1154delinsGCTTT
ENST00000618395.4:c.*1150_*1154delinsGCTTT	ENSP00000481360.1:n.*1150_*1154delinsGCTTT
NM_000093.4:c.*1150_*1154delinsGCTTT	NP_000084.3:n.*1150_*1154delinsGCTTT
NM_001278074.1:c.*1150_*1154delinsGCTTT	NP_001265003.1:n.*1150_*1154delinsGCTTT
NR_103451.2:n.71-23248_71-23244delinsAAAGC
NM_000093.5:c.*1150_*1154delinsGCTTT MANE Select	NP_000084.3:n.*1150_*1154delinsGCTTT