Canonical Allele Identifier: CA2570410558

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843161_134843162insCCCC , CM000671.2:g.134843161_134843162insCCCC	GRCh38
NC_000009.11:g.137735007_137735008insCCCC , CM000671.1:g.137735007_137735008insCCCC	GRCh37
NC_000009.10:g.136874828_136874829insCCCC	NCBI36
NG_008030.1:g.206356_206357insCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*858_*859insCCCC	ENSP00000360885.4:n.*858_*859insCCCC
ENST00000371817.8:c.*858_*859insCCCC MANE Select	ENSP00000360882.3:n.*858_*859insCCCC
ENST00000371817.7:c.*858_*859insCCCC	ENSP00000360882.3:n.*858_*859insCCCC
ENST00000618395.4:c.*858_*859insCCCC	ENSP00000481360.1:n.*858_*859insCCCC
NM_000093.4:c.*858_*859insCCCC	NP_000084.3:n.*858_*859insCCCC
NM_001278074.1:c.*858_*859insCCCC	NP_001265003.1:n.*858_*859insCCCC
NR_103451.2:n.71-22953_71-22952insGGGG
NM_000093.5:c.*858_*859insCCCC MANE Select	NP_000084.3:n.*858_*859insCCCC