Canonical Allele Identifier: CA2580080033

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2108746
• ClinVar RCV Id: RCV003029566

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750631_134750632delinsTG , CM000671.2:g.134750631_134750632delinsTG	GRCh38
NC_000009.11:g.137642477_137642478delinsTG , CM000671.1:g.137642477_137642478delinsTG	GRCh37
NC_000009.10:g.136782298_136782299delinsTG	NCBI36
NG_008030.1:g.113826_113827delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1569+15_1569+16delinsTG	ENSP00000360885.4:n.1569+15_1569+16delinsTG
ENST00000371817.8:c.1569+15_1569+16delinsTG MANE Select	ENSP00000360882.3:n.1569+15_1569+16delinsTG
ENST00000371817.7:c.1569+15_1569+16delinsTG	ENSP00000360882.3:n.1569+15_1569+16delinsTG
ENST00000618395.4:c.1569+15_1569+16delinsTG	ENSP00000481360.1:n.1569+15_1569+16delinsTG
NM_000093.4:c.1569+15_1569+16delinsTG	NP_000084.3:n.1569+15_1569+16delinsTG
NM_001278074.1:c.1569+15_1569+16delinsTG	NP_001265003.1:n.1569+15_1569+16delinsTG
XR_929712.1:n.1971+15_1971+16delinsTG
XR_929713.1:n.1971+15_1971+16delinsTG
XM_017014266.2:c.1569+15_1569+16delinsTG	XP_016869755.1:n.1569+15_1569+16delinsTG
XR_001746183.1:n.1967+15_1967+16delinsTG
NM_000093.5:c.1569+15_1569+16delinsTG MANE Select	NP_000084.3:n.1569+15_1569+16delinsTG