Canonical Allele Identifier: CA2579505697

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134750682-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750683_134750684del , CM000671.2:g.134750683_134750684del	GRCh38
NC_000009.11:g.137642529_137642530del , CM000671.1:g.137642529_137642530del	GRCh37
NC_000009.10:g.136782350_136782351del	NCBI36
NG_008030.1:g.113878_113879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1569+67_1569+68del	ENSP00000360885.4:n.1569+67_1569+68del
ENST00000371817.8:c.1569+67_1569+68del MANE Select	ENSP00000360882.3:n.1569+67_1569+68del
ENST00000371817.7:c.1569+67_1569+68del	ENSP00000360882.3:n.1569+67_1569+68del
ENST00000618395.4:c.1569+67_1569+68del	ENSP00000481360.1:n.1569+67_1569+68del
NM_000093.4:c.1569+67_1569+68del	NP_000084.3:n.1569+67_1569+68del
NM_001278074.1:c.1569+67_1569+68del	NP_001265003.1:n.1569+67_1569+68del
XR_929712.1:n.1971+67_1971+68del
XR_929713.1:n.1971+67_1971+68del
XM_017014266.2:c.1569+67_1569+68del	XP_016869755.1:n.1569+67_1569+68del
XR_001746183.1:n.1967+67_1967+68del
NM_000093.5:c.1569+67_1569+68del MANE Select	NP_000084.3:n.1569+67_1569+68del