Canonical Allele Identifier: CA2580080061

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2037408
• ClinVar RCV Id: RCV002882201

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842140_134842141delinsCC , CM000671.2:g.134842140_134842141delinsCC	GRCh38
NC_000009.11:g.137733986_137733987delinsCC , CM000671.1:g.137733986_137733987delinsCC	GRCh37
NC_000009.10:g.136873807_136873808delinsCC	NCBI36
NG_008030.1:g.205335_205336delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5371-17_5371-16delinsCC	ENSP00000360885.4:n.5371-17_5371-16delinsCC
ENST00000371817.8:c.5371-17_5371-16delinsCC MANE Select	ENSP00000360882.3:n.5371-17_5371-16delinsCC
ENST00000371817.7:c.5371-17_5371-16delinsCC	ENSP00000360882.3:n.5371-17_5371-16delinsCC
ENST00000618395.4:c.5371-17_5371-16delinsCC	ENSP00000481360.1:n.5371-17_5371-16delinsCC
NM_000093.4:c.5371-17_5371-16delinsCC	NP_000084.3:n.5371-17_5371-16delinsCC
NM_001278074.1:c.5371-17_5371-16delinsCC	NP_001265003.1:n.5371-17_5371-16delinsCC
NR_103451.2:n.71-21932_71-21931delinsGG
NM_000093.5:c.5371-17_5371-16delinsCC MANE Select	NP_000084.3:n.5371-17_5371-16delinsCC