Canonical Allele Identifier: CA591117577

Gene: COL5A1

Linked Data

• gnomAD v2: 9-137735026-A-AT
• gnomAD v4: 9-134843180-A-AT
• MyVariant Identifiers: chr9:g.137735026_137735027insT (hg19) ; chr9:g.134843180_134843181insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843180_134843181insT , CM000671.2:g.134843180_134843181insT	GRCh38
NC_000009.11:g.137735026_137735027insT , CM000671.1:g.137735026_137735027insT	GRCh37
NC_000009.10:g.136874847_136874848insT	NCBI36
NG_008030.1:g.206375_206376insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*877_*878insT	ENSP00000360885.4:n.*877_*878insT
ENST00000371817.8:c.*877_*878insT MANE Select	ENSP00000360882.3:n.*877_*878insT
ENST00000371817.7:c.*877_*878insT	ENSP00000360882.3:n.*877_*878insT
ENST00000618395.4:c.*877_*878insT	ENSP00000481360.1:n.*877_*878insT
NM_000093.4:c.*877_*878insT	NP_000084.3:n.*877_*878insT
NM_001278074.1:c.*877_*878insT	NP_001265003.1:n.*877_*878insT
NR_103451.2:n.71-22972_71-22971insA
NM_000093.5:c.*877_*878insT MANE Select	NP_000084.3:n.*877_*878insT