Canonical Allele Identifier: CA1883393212

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835456_134835487delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT , CM000671.2:g.134835456_134835487delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT	GRCh38
NC_000009.11:g.137727302_137727333delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT , CM000671.1:g.137727302_137727333delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT	GRCh37
NC_000009.10:g.136867123_136867154delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT	NCBI36
NG_008030.1:g.198651_198682delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT	ENSP00000360885.4:n.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCG...
ENST00000371817.8:c.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT MANE Select	ENSP00000360882.3:n.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCG...
ENST00000371817.7:c.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT	ENSP00000360882.3:n.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCG...
ENST00000618395.4:c.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT	ENSP00000481360.1:n.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCG...
NM_000093.4:c.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT	NP_000084.3:n.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCCCAT...
NM_001278074.1:c.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT	NP_001265003.1:n.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCC...
NR_103451.2:n.71-15278_71-15247delinsAGCCCTGGATGGGGCGAGGGACCCACGCCCCT
NM_000093.5:c.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCCCATCCAGGGCT MANE Select	NP_000084.3:n.5370+252_5370+283delinsAGGGGCGTGGGTCCCTCGCCCCAT...