Canonical Allele Identifier: CA2662317827

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050761-ACAGGTTTTTCAGTATGAAAAAGAAGTTCTCTGTTTCTCAAAATCATACTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050762_189050812del , CM000664.2:g.189050762_189050812del	GRCh38
NC_000002.11:g.189915488_189915538del , CM000664.1:g.189915488_189915538del	GRCh37
NC_000002.10:g.189623733_189623783del	NCBI36
NG_011799.1:g.134068_134118del
NG_011799.2:g.134068_134118del
NG_011799.3:g.179490_179540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-136_2932-86del MANE Select	ENSP00000364000.3:n.2932-136_2932-86del
ENST00000374866.7:c.2932-136_2932-86del	ENSP00000364000.3:n.2932-136_2932-86del
ENST00000618828.1:c.1771-136_1771-86del	ENSP00000482184.1:n.1771-136_1771-86del
NM_000393.3:c.2932-136_2932-86del	NP_000384.2:n.2932-136_2932-86del
XM_011510573.1:c.2794-136_2794-86del	XP_011508875.1:n.2794-136_2794-86del
NM_000393.4:c.2932-136_2932-86del	NP_000384.2:n.2932-136_2932-86del
XM_011510573.3:c.2794-136_2794-86del	XP_011508875.1:n.2794-136_2794-86del
NM_000393.5:c.2932-136_2932-86del MANE Select	NP_000384.2:n.2932-136_2932-86del