Canonical Allele Identifier: CA2695211574

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835132_134835149del , CM000671.2:g.134835132_134835149del	GRCh38
NC_000009.11:g.137726978_137726995del , CM000671.1:g.137726978_137726995del	GRCh37
NC_000009.10:g.136866799_136866816del	NCBI36
NG_008030.1:g.198327_198344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5298_5315del	ENSP00000360885.4:p.Phe1766_Glu1772delinsLeu
ENST00000371817.8:c.5298_5315del MANE Select	ENSP00000360882.3:p.Phe1766_Glu1772delinsLeu
ENST00000371817.7:c.5298_5315del	ENSP00000360882.3:p.Phe1766_Glu1772delinsLeu
ENST00000371820.3:c.556_573del
ENST00000618395.4:c.5298_5315del	ENSP00000481360.1:p.Phe1766_Glu1772delinsLeu
NM_000093.4:c.5298_5315del	NP_000084.3:p.Phe1766_Glu1772delinsLeu
NM_001278074.1:c.5298_5315del	NP_001265003.1:p.Phe1766_Glu1772delinsLeu
NR_103451.2:n.71-14940_71-14923del
NM_000093.5:c.5298_5315del MANE Select	NP_000084.3:p.Phe1766_Glu1772delinsLeu