Canonical Allele Identifier: CA1883393066

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835204_134835208delinsTGTGA , CM000671.2:g.134835204_134835208delinsTGTGA	GRCh38
NC_000009.11:g.137727050_137727054delinsTGTGA , CM000671.1:g.137727050_137727054delinsTGTGA	GRCh37
NC_000009.10:g.136866871_136866875delinsTGTGA	NCBI36
NG_008030.1:g.198399_198403delinsTGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370_5370+4delinsTGTGA
ENST00000371817.8:c.5370_5370+4delinsTGTGA
ENST00000371817.7:c.5370_5370+4delinsTGTGA
ENST00000618395.4:c.5370_5370+4delinsTGTGA
NM_000093.4:c.5370_5370+4delinsTGTGA
NM_001278074.1:c.5370_5370+4delinsTGTGA
NR_103451.2:n.71-14999_71-14995delinsTCACA
NM_000093.5:c.5370_5370+4delinsTGTGA