Canonical Allele Identifier: CA1129865169

Gene: COL5A1

Linked Data

• dbSNP Id: rs1835729130
• gnomAD v3: 9-134750359-GCCGTGC-G
• gnomAD v4: 9-134750359-GCCGTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750362_134750367del , CM000671.2:g.134750362_134750367del	GRCh38
NC_000009.11:g.137642208_137642213del , CM000671.1:g.137642208_137642213del	GRCh37
NC_000009.10:g.136782029_136782034del	NCBI36
NG_008030.1:g.113557_113562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1495-180_1495-175del	ENSP00000360885.4:n.1495-180_1495-175del
ENST00000371817.8:c.1495-180_1495-175del MANE Select	ENSP00000360882.3:n.1495-180_1495-175del
ENST00000371817.7:c.1495-180_1495-175del	ENSP00000360882.3:n.1495-180_1495-175del
ENST00000618395.4:c.1495-180_1495-175del	ENSP00000481360.1:n.1495-180_1495-175del
NM_000093.4:c.1495-180_1495-175del	NP_000084.3:n.1495-180_1495-175del
NM_001278074.1:c.1495-180_1495-175del	NP_001265003.1:n.1495-180_1495-175del
XR_929712.1:n.1897-180_1897-175del
XR_929713.1:n.1897-180_1897-175del
XM_017014266.2:c.1495-180_1495-175del	XP_016869755.1:n.1495-180_1495-175del
XR_001746183.1:n.1893-180_1893-175del
NM_000093.5:c.1495-180_1495-175del MANE Select	NP_000084.3:n.1495-180_1495-175del