Canonical Allele Identifier: CA658797358

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834984_134834992del , CM000671.2:g.134834984_134834992del	GRCh38
NC_000009.11:g.137726830_137726838del , CM000671.1:g.137726830_137726838del	GRCh37
NC_000009.10:g.136866651_136866659del	NCBI36
NG_008030.1:g.198179_198187del

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.5150_5158del MANE Select	NP_000084.3:p.Asp1717_Glu1719del
ENST00000371817.8:c.5150_5158del MANE Select	ENSP00000360882.3:p.Asp1717_Glu1719del
NM_000093.4:c.5150_5158del	NP_000084.3:p.Asp1717_Glu1719del
NM_001278074.1:c.5150_5158del	NP_001265003.1:p.Asp1717_Glu1719del
NR_103451.2:n.71-14781_71-14773del
ENST00000371817.7:c.5150_5158del	ENSP00000360882.3:p.Asp1717_Glu1719del
ENST00000371820.3:c.408_416del
ENST00000371820.4:c.5150_5158del	ENSP00000360885.4:p.Asp1717_Glu1719del
ENST00000618395.4:c.5150_5158del	ENSP00000481360.1:p.Asp1717_Glu1719del
XR_929712.1:n.5834_5842del
XR_929713.1:n.5702_5710del