Canonical Allele Identifier: CA1883397449

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843129_134843133delinsTCAGA , CM000671.2:g.134843129_134843133delinsTCAGA	GRCh38
NC_000009.11:g.137734975_137734979delinsTCAGA , CM000671.1:g.137734975_137734979delinsTCAGA	GRCh37
NC_000009.10:g.136874796_136874800delinsTCAGA	NCBI36
NG_008030.1:g.206324_206328delinsTCAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.*826_*830delinsTCAGA	ENSP00000360885.4:n.*826_*830delinsTCAGA
ENST00000371817.8:c.*826_*830delinsTCAGA MANE Select	ENSP00000360882.3:n.*826_*830delinsTCAGA
ENST00000371817.7:c.*826_*830delinsTCAGA	ENSP00000360882.3:n.*826_*830delinsTCAGA
ENST00000618395.4:c.*826_*830delinsTCAGA	ENSP00000481360.1:n.*826_*830delinsTCAGA
NM_000093.4:c.*826_*830delinsTCAGA	NP_000084.3:n.*826_*830delinsTCAGA
NM_001278074.1:c.*826_*830delinsTCAGA	NP_001265003.1:n.*826_*830delinsTCAGA
NR_103451.2:n.71-22924_71-22920delinsTCTGA
NM_000093.5:c.*826_*830delinsTCAGA MANE Select	NP_000084.3:n.*826_*830delinsTCAGA