Canonical Allele Identifier: CA2840001351

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835049del , CM000671.2:g.134835049del	GRCh38
NC_000009.11:g.137726895del , CM000671.1:g.137726895del	GRCh37
NC_000009.10:g.136866716del	NCBI36
NG_008030.1:g.198244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5215del	ENSP00000360885.4:p.His1739ThrfsTer?
ENST00000371817.8:c.5215del MANE Select	ENSP00000360882.3:p.His1739ThrfsTer?
ENST00000371817.7:c.5215del	ENSP00000360882.3:p.His1739ThrfsTer?
ENST00000371820.3:c.473del
ENST00000618395.4:c.5215del	ENSP00000481360.1:p.His1739ThrfsTer?
NM_000093.4:c.5215del	NP_000084.3:p.His1739ThrfsTer?
NM_001278074.1:c.5215del	NP_001265003.1:p.His1739ThrfsTer?
NR_103451.2:n.71-14838del
XR_929712.1:n.5899del
XR_929713.1:n.5767del
NM_000093.5:c.5215del MANE Select	NP_000084.3:p.His1739ThrfsTer?