Canonical Allele Identifier: CA2741061207

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835013_134835014del , CM000671.2:g.134835013_134835014del	GRCh38
NC_000009.11:g.137726859_137726860del , CM000671.1:g.137726859_137726860del	GRCh37
NC_000009.10:g.136866680_136866681del	NCBI36
NG_008030.1:g.198208_198209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5179_5180del	ENSP00000360885.4:p.Gln1727AspfsTer?
ENST00000371817.8:c.5179_5180del MANE Select	ENSP00000360882.3:p.Gln1727AspfsTer?
ENST00000371817.7:c.5179_5180del	ENSP00000360882.3:p.Gln1727AspfsTer?
ENST00000371820.3:c.437_438del
ENST00000618395.4:c.5179_5180del	ENSP00000481360.1:p.Gln1727AspfsTer?
NM_000093.4:c.5179_5180del	NP_000084.3:p.Gln1727AspfsTer?
NM_001278074.1:c.5179_5180del	NP_001265003.1:p.Gln1727AspfsTer?
NR_103451.2:n.71-14804_71-14803del
XR_929712.1:n.5863_5864del
XR_929713.1:n.5731_5732del
NM_000093.5:c.5179_5180del MANE Select	NP_000084.3:p.Gln1727AspfsTer?