Canonical Allele Identifier: CA2692454542

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134750652-CTGGGGCAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750657_134750665del , CM000671.2:g.134750657_134750665del	GRCh38
NC_000009.11:g.137642503_137642511del , CM000671.1:g.137642503_137642511del	GRCh37
NC_000009.10:g.136782324_136782332del	NCBI36
NG_008030.1:g.113852_113860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1569+41_1569+49del	ENSP00000360885.4:n.1569+41_1569+49del
ENST00000371817.8:c.1569+41_1569+49del MANE Select	ENSP00000360882.3:n.1569+41_1569+49del
ENST00000371817.7:c.1569+41_1569+49del	ENSP00000360882.3:n.1569+41_1569+49del
ENST00000618395.4:c.1569+41_1569+49del	ENSP00000481360.1:n.1569+41_1569+49del
NM_000093.4:c.1569+41_1569+49del	NP_000084.3:n.1569+41_1569+49del
NM_001278074.1:c.1569+41_1569+49del	NP_001265003.1:n.1569+41_1569+49del
XR_929712.1:n.1971+41_1971+49del
XR_929713.1:n.1971+41_1971+49del
XM_017014266.2:c.1569+41_1569+49del	XP_016869755.1:n.1569+41_1569+49del
XR_001746183.1:n.1967+41_1967+49del
NM_000093.5:c.1569+41_1569+49del MANE Select	NP_000084.3:n.1569+41_1569+49del