Canonical Allele Identifier: CA10626838

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 365762
• ClinVar RCV Id: RCV000356875
• dbSNP Id: rs886063684
• MyVariant Identifiers: chr9:g.137735015_137735016insTAG (hg19) ; chr9:g.134843169_134843170insTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843169_134843170insTAG , CM000671.2:g.134843169_134843170insTAG	GRCh38
NC_000009.11:g.137735015_137735016insTAG , CM000671.1:g.137735015_137735016insTAG	GRCh37
NC_000009.10:g.136874836_136874837insTAG	NCBI36
NG_008030.1:g.206364_206365insTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.*866_*867insTAG	ENSP00000360885.4:n.*866_*867insTAG
ENST00000371817.8:c.*866_*867insTAG MANE Select	ENSP00000360882.3:n.*866_*867insTAG
ENST00000371817.7:c.*866_*867insTAG	ENSP00000360882.3:n.*866_*867insTAG
ENST00000618395.4:c.*866_*867insTAG	ENSP00000481360.1:n.*866_*867insTAG
NM_000093.4:c.*866_*867insTAG	NP_000084.3:n.*866_*867insTAG
NM_001278074.1:c.*866_*867insTAG	NP_001265003.1:n.*866_*867insTAG
NR_103451.2:n.71-22961_71-22960insCTA
NM_000093.5:c.*866_*867insTAG MANE Select	NP_000084.3:n.*866_*867insTAG