Canonical Allele Identifier: CA916083083

Gene: COL5A1

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134767025del , CM000671.2:g.134767025del	GRCh38
NC_000009.11:g.137658871del , CM000671.1:g.137658871del	GRCh37
NC_000009.10:g.136798692del	NCBI36
NG_008030.1:g.130220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.2159del	ENSP00000360885.4:p.Pro720GlnfsTer?
ENST00000371817.8:c.2159del MANE Select	ENSP00000360882.3:p.Pro720GlnfsTer?
ENST00000371817.7:c.2159del	ENSP00000360882.3:p.Pro720GlnfsTer?
ENST00000618395.4:c.2159del	ENSP00000481360.1:p.Pro720GlnfsTer?
NM_000093.4:c.2159del	NP_000084.3:p.Pro720GlnfsTer?
NM_001278074.1:c.2159del	NP_001265003.1:p.Pro720GlnfsTer?
XR_929712.1:n.2561del
XR_929713.1:n.2561del
XM_017014266.2:c.2159del	XP_016869755.1:p.Pro720GlnfsTer?
XR_001746183.1:n.2557del
NM_000093.5:c.2159del MANE Select	NP_000084.3:p.Pro720GlnfsTer?