Canonical Allele Identifier: CA322364

Gene: COL5A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.2159dup	ENSP00000360885.4:p.Gly721ArgfsTer5
ENST00000371817.8:c.2159dup MANE Select	ENSP00000360882.3:p.Gly721ArgfsTer5
ENST00000371817.7:c.2159dup	ENSP00000360882.3:p.Gly721ArgfsTer5
ENST00000618395.4:c.2159dup	ENSP00000481360.1:p.Gly721ArgfsTer5
NM_000093.4:c.2159dup	NP_000084.3:p.Gly721ArgfsTer5
NM_001278074.1:c.2159dup	NP_001265003.1:p.Gly721ArgfsTer5
XR_929712.1:n.2561dup
XR_929713.1:n.2561dup
XM_017014266.2:c.2159dup	XP_016869755.1:p.Gly721ArgfsTer5
XR_001746183.1:n.2557dup
NM_000093.5:c.2159dup MANE Select	NP_000084.3:p.Gly721ArgfsTer5