Canonical Allele Identifier: CA591108398

Gene: COL5A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134812612dup , CM000671.2:g.134812612dup	GRCh38
NC_000009.11:g.137704458dup , CM000671.1:g.137704458dup	GRCh37
NC_000009.10:g.136844279dup	NCBI36
NG_008030.1:g.175807dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.3752dup	ENSP00000360885.4:p.Pro1253SerfsTer14
ENST00000371817.8:c.3752dup MANE Select	ENSP00000360882.3:p.Pro1253SerfsTer14
ENST00000371817.7:c.3752dup	ENSP00000360882.3:p.Pro1253SerfsTer14
ENST00000618395.4:c.3752dup	ENSP00000481360.1:p.Pro1253SerfsTer14
NM_000093.4:c.3752dup	NP_000084.3:p.Pro1253SerfsTer14
NM_001278074.1:c.3752dup	NP_001265003.1:p.Pro1253SerfsTer14
XR_929712.1:n.4154dup
XR_929713.1:n.4154dup
XM_017014266.2:c.3752dup	XP_016869755.1:p.Pro1253SerfsTer14
XR_001746183.1:n.4150dup
NM_000093.5:c.3752dup MANE Select	NP_000084.3:p.Pro1253SerfsTer14