Canonical Allele Identifier: CA2692461733

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134835153-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835154_134835155del , CM000671.2:g.134835154_134835155del	GRCh38
NC_000009.11:g.137727000_137727001del , CM000671.1:g.137727000_137727001del	GRCh37
NC_000009.10:g.136866821_136866822del	NCBI36
NG_008030.1:g.198349_198350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5320_5321del	ENSP00000360885.4:p.Met1774ValfsTer3
ENST00000371817.8:c.5320_5321del MANE Select	ENSP00000360882.3:p.Met1774ValfsTer3
ENST00000371817.7:c.5320_5321del	ENSP00000360882.3:p.Met1774ValfsTer3
ENST00000371820.3:c.578_579del
ENST00000618395.4:c.5320_5321del	ENSP00000481360.1:p.Met1774ValfsTer3
NM_000093.4:c.5320_5321del	NP_000084.3:p.Met1774ValfsTer3
NM_001278074.1:c.5320_5321del	NP_001265003.1:p.Met1774ValfsTer3
NR_103451.2:n.71-14946_71-14945del
NM_000093.5:c.5320_5321del MANE Select	NP_000084.3:p.Met1774ValfsTer3