Canonical Allele Identifier: CA5318888

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2079303
• ClinVar RCV Id: RCV002995271
• dbSNP Id: rs760200734
• ExAC: 9:137642741 G / GGGTCCCAA
• gnomAD v2: 9-137642741-G-GGGTCCCAA
• gnomAD v3: 9-134750895-G-GGGTCCCAA
• gnomAD v4: 9-134750895-G-GGGTCCCAA
• MyVariant Identifiers: chr9:g.137642741_137642742insGGTCCCAA (hg19) ; chr9:g.134750895_134750896insGGTCCCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750897_134750904dup , CM000671.2:g.134750897_134750904dup	GRCh38
NC_000009.11:g.137642743_137642750dup , CM000671.1:g.137642743_137642750dup	GRCh37
NC_000009.10:g.136782564_136782571dup	NCBI36
NG_008030.1:g.114092_114099dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1662+15_1662+22dup	ENSP00000360885.4:n.1662+15_1662+22dup
ENST00000371817.8:c.1662+15_1662+22dup MANE Select	ENSP00000360882.3:n.1662+15_1662+22dup
ENST00000371817.7:c.1662+15_1662+22dup	ENSP00000360882.3:n.1662+15_1662+22dup
ENST00000618395.4:c.1662+15_1662+22dup	ENSP00000481360.1:n.1662+15_1662+22dup
NM_000093.4:c.1662+15_1662+22dup	NP_000084.3:n.1662+15_1662+22dup
NM_001278074.1:c.1662+15_1662+22dup	NP_001265003.1:n.1662+15_1662+22dup
XR_929712.1:n.2064+15_2064+22dup
XR_929713.1:n.2064+15_2064+22dup
XM_017014266.2:c.1662+15_1662+22dup	XP_016869755.1:n.1662+15_1662+22dup
XR_001746183.1:n.2060+15_2060+22dup
NM_000093.5:c.1662+15_1662+22dup MANE Select	NP_000084.3:n.1662+15_1662+22dup