Canonical Allele Identifier: CA1129893964

Gene: COL5A1

Linked Data

• dbSNP Id: rs1830120985
• gnomAD v3: 9-134842090-GT-G
• gnomAD v4: 9-134842090-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842091del , CM000671.2:g.134842091del	GRCh38
NC_000009.11:g.137733937del , CM000671.1:g.137733937del	GRCh37
NC_000009.10:g.136873758del	NCBI36
NG_008030.1:g.205286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5371-66del	ENSP00000360885.4:n.5371-66del
ENST00000371817.8:c.5371-66del MANE Select	ENSP00000360882.3:n.5371-66del
ENST00000371817.7:c.5371-66del	ENSP00000360882.3:n.5371-66del
ENST00000618395.4:c.5371-66del	ENSP00000481360.1:n.5371-66del
NM_000093.4:c.5371-66del	NP_000084.3:n.5371-66del
NM_001278074.1:c.5371-66del	NP_001265003.1:n.5371-66del
NR_103451.2:n.71-21882del
NM_000093.5:c.5371-66del MANE Select	NP_000084.3:n.5371-66del