Canonical Allele Identifier: CA1129894697

Gene: COL5A1

Linked Data

• gnomAD v3: 9-134843026-T-TCCCCCC
• gnomAD v4: 9-134843026-T-TCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843030_134843031insCCCCCC , CM000671.2:g.134843030_134843031insCCCCCC	GRCh38
NC_000009.11:g.137734876_137734877insCCCCCC , CM000671.1:g.137734876_137734877insCCCCCC	GRCh37
NC_000009.10:g.136874697_136874698insCCCCCC	NCBI36
NG_008030.1:g.206225_206226insCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*727_*728insCCCCCC	ENSP00000360885.4:n.*727_*728insCCCCCC
ENST00000371817.8:c.*727_*728insCCCCCC MANE Select	ENSP00000360882.3:n.*727_*728insCCCCCC
ENST00000371817.7:c.*727_*728insCCCCCC	ENSP00000360882.3:n.*727_*728insCCCCCC
ENST00000618395.4:c.*727_*728insCCCCCC	ENSP00000481360.1:n.*727_*728insCCCCCC
NM_000093.4:c.*727_*728insCCCCCC	NP_000084.3:n.*727_*728insCCCCCC
NM_001278074.1:c.*727_*728insCCCCCC	NP_001265003.1:n.*727_*728insCCCCCC
NR_103451.2:n.71-22818_71-22817insGGGGGG
NM_000093.5:c.*727_*728insCCCCCC MANE Select	NP_000084.3:n.*727_*728insCCCCCC