Canonical Allele Identifier: CA2692462689

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134843384-GTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843386_134843388del , CM000671.2:g.134843386_134843388del	GRCh38
NC_000009.11:g.137735232_137735234del , CM000671.1:g.137735232_137735234del	GRCh37
NC_000009.10:g.136875053_136875055del	NCBI36
NG_008030.1:g.206581_206583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1083_*1085del	ENSP00000360885.4:n.*1083_*1085del
ENST00000371817.8:c.*1083_*1085del MANE Select	ENSP00000360882.3:n.*1083_*1085del
ENST00000371817.7:c.*1083_*1085del	ENSP00000360882.3:n.*1083_*1085del
ENST00000618395.4:c.*1083_*1085del	ENSP00000481360.1:n.*1083_*1085del
NM_000093.4:c.*1083_*1085del	NP_000084.3:n.*1083_*1085del
NM_001278074.1:c.*1083_*1085del	NP_001265003.1:n.*1083_*1085del
NR_103451.2:n.71-23178_71-23176del
NM_000093.5:c.*1083_*1085del MANE Select	NP_000084.3:n.*1083_*1085del