Canonical Allele Identifier: CA2692445896

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134822193-GAGGGTGGGGATAAGCCTTGGGGCCTCAGTGTGGAGCTAGAGAATTGTGGAAAAGTCACACGAGAAGCTGGAATTGGGGCCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822201_134822283del , CM000671.2:g.134822201_134822283del	GRCh38
NC_000009.11:g.137714047_137714129del , CM000671.1:g.137714047_137714129del	GRCh37
NC_000009.10:g.136853868_136853950del	NCBI36
NG_008030.1:g.185396_185478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+51_4608+133del	ENSP00000360885.4:n.4608+51_4608+133del
ENST00000371817.8:c.4608+51_4608+133del MANE Select	ENSP00000360882.3:n.4608+51_4608+133del
ENST00000371817.7:c.4608+51_4608+133del	ENSP00000360882.3:n.4608+51_4608+133del
ENST00000618395.4:c.4608+51_4608+133del	ENSP00000481360.1:n.4608+51_4608+133del
NM_000093.4:c.4608+51_4608+133del	NP_000084.3:n.4608+51_4608+133del
NM_001278074.1:c.4608+51_4608+133del	NP_001265003.1:n.4608+51_4608+133del
NR_103451.2:n.71-2067_71-1985del
XR_929712.1:n.5010+51_5010+133del
XR_929713.1:n.5010+51_5010+133del
XM_017014266.2:c.4608+51_4608+133del	XP_016869755.1:n.4608+51_4608+133del
XR_001746183.1:n.5006+51_5006+133del
NM_000093.5:c.4608+51_4608+133del MANE Select	NP_000084.3:n.4608+51_4608+133del