Canonical Allele Identifier: CA1883396534

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842072_134842076delinsCCAGA , CM000671.2:g.134842072_134842076delinsCCAGA	GRCh38
NC_000009.11:g.137733918_137733922delinsCCAGA , CM000671.1:g.137733918_137733922delinsCCAGA	GRCh37
NC_000009.10:g.136873739_136873743delinsCCAGA	NCBI36
NG_008030.1:g.205267_205271delinsCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5371-85_5371-81delinsCCAGA	ENSP00000360885.4:n.5371-85_5371-81delinsCCAGA
ENST00000371817.8:c.5371-85_5371-81delinsCCAGA MANE Select	ENSP00000360882.3:n.5371-85_5371-81delinsCCAGA
ENST00000371817.7:c.5371-85_5371-81delinsCCAGA	ENSP00000360882.3:n.5371-85_5371-81delinsCCAGA
ENST00000618395.4:c.5371-85_5371-81delinsCCAGA	ENSP00000481360.1:n.5371-85_5371-81delinsCCAGA
NM_000093.4:c.5371-85_5371-81delinsCCAGA	NP_000084.3:n.5371-85_5371-81delinsCCAGA
NM_001278074.1:c.5371-85_5371-81delinsCCAGA	NP_001265003.1:n.5371-85_5371-81delinsCCAGA
NR_103451.2:n.71-21867_71-21863delinsTCTGG
NM_000093.5:c.5371-85_5371-81delinsCCAGA MANE Select	NP_000084.3:n.5371-85_5371-81delinsCCAGA