Canonical Allele Identifier: CA1129894929

Gene: COL5A1

Linked Data

• gnomAD v3: 9-134843171-T-TAGAG
• gnomAD v4: 9-134843171-T-TAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843173_134843174insAGAG , CM000671.2:g.134843173_134843174insAGAG	GRCh38
NC_000009.11:g.137735019_137735020insAGAG , CM000671.1:g.137735019_137735020insAGAG	GRCh37
NC_000009.10:g.136874840_136874841insAGAG	NCBI36
NG_008030.1:g.206368_206369insAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*870_*871insAGAG	ENSP00000360885.4:n.*870_*871insAGAG
ENST00000371817.8:c.*870_*871insAGAG MANE Select	ENSP00000360882.3:n.*870_*871insAGAG
ENST00000371817.7:c.*870_*871insAGAG	ENSP00000360882.3:n.*870_*871insAGAG
ENST00000618395.4:c.*870_*871insAGAG	ENSP00000481360.1:n.*870_*871insAGAG
NM_000093.4:c.*870_*871insAGAG	NP_000084.3:n.*870_*871insAGAG
NM_001278074.1:c.*870_*871insAGAG	NP_001265003.1:n.*870_*871insAGAG
NR_103451.2:n.71-22963_71-22962insCTCT
NM_000093.5:c.*870_*871insAGAG MANE Select	NP_000084.3:n.*870_*871insAGAG