Canonical Allele Identifier: CA2692461693

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134842060-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842063del , CM000671.2:g.134842063del	GRCh38
NC_000009.11:g.137733909del , CM000671.1:g.137733909del	GRCh37
NC_000009.10:g.136873730del	NCBI36
NG_008030.1:g.205258del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5371-94del	ENSP00000360885.4:n.5371-94del
ENST00000371817.8:c.5371-94del MANE Select	ENSP00000360882.3:n.5371-94del
ENST00000371817.7:c.5371-94del	ENSP00000360882.3:n.5371-94del
ENST00000618395.4:c.5371-94del	ENSP00000481360.1:n.5371-94del
NM_000093.4:c.5371-94del	NP_000084.3:n.5371-94del
NM_001278074.1:c.5371-94del	NP_001265003.1:n.5371-94del
NR_103451.2:n.71-21852del
NM_000093.5:c.5371-94del MANE Select	NP_000084.3:n.5371-94del