Canonical Allele Identifier: CA2692453302

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134731345-ACCGGGTAGCCATGGTGCCAGCACAGGGCCTGATGGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731347_134731383del , CM000671.2:g.134731347_134731383del	GRCh38
NC_000009.11:g.137623193_137623229del , CM000671.1:g.137623193_137623229del	GRCh37
NC_000009.10:g.136763014_136763050del	NCBI36
NG_008030.1:g.94542_94578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1165-149_1165-113del	ENSP00000360885.4:n.1165-149_1165-113del
ENST00000371817.8:c.1165-149_1165-113del MANE Select	ENSP00000360882.3:n.1165-149_1165-113del
ENST00000371817.7:c.1165-149_1165-113del	ENSP00000360882.3:n.1165-149_1165-113del
ENST00000618395.4:c.1165-149_1165-113del	ENSP00000481360.1:n.1165-149_1165-113del
NM_000093.4:c.1165-149_1165-113del	NP_000084.3:n.1165-149_1165-113del
NM_001278074.1:c.1165-149_1165-113del	NP_001265003.1:n.1165-149_1165-113del
XR_929712.1:n.1567-149_1567-113del
XR_929713.1:n.1567-149_1567-113del
XM_017014266.2:c.1165-149_1165-113del	XP_016869755.1:n.1165-149_1165-113del
XR_001746183.1:n.1563-149_1563-113del
NM_000093.5:c.1165-149_1165-113del MANE Select	NP_000084.3:n.1165-149_1165-113del