Canonical Allele Identifier: CA860860487

Gene: COL5A1

Linked Data

• dbSNP Id: rs1046138779
• MyVariant Identifiers: chr9:g.137623170_137623171insG (hg19) ; chr9:g.134731324_134731325insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731330dup , CM000671.2:g.134731330dup	GRCh38
NC_000009.11:g.137623176dup , CM000671.1:g.137623176dup	GRCh37
NC_000009.10:g.136762997dup	NCBI36
NG_008030.1:g.94525dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1165-166dup	ENSP00000360885.4:n.1165-166dup
ENST00000371817.8:c.1165-166dup MANE Select	ENSP00000360882.3:n.1165-166dup
ENST00000371817.7:c.1165-166dup	ENSP00000360882.3:n.1165-166dup
ENST00000618395.4:c.1165-166dup	ENSP00000481360.1:n.1165-166dup
NM_000093.4:c.1165-166dup	NP_000084.3:n.1165-166dup
NM_001278074.1:c.1165-166dup	NP_001265003.1:n.1165-166dup
XR_929712.1:n.1567-166dup
XR_929713.1:n.1567-166dup
XM_017014266.2:c.1165-166dup	XP_016869755.1:n.1165-166dup
XR_001746183.1:n.1563-166dup
NM_000093.5:c.1165-166dup MANE Select	NP_000084.3:n.1165-166dup