Canonical Allele Identifier: CA2662317747

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050495-AAAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050501_189050505del , CM000664.2:g.189050501_189050505del	GRCh38
NC_000002.11:g.189915227_189915231del , CM000664.1:g.189915227_189915231del	GRCh37
NC_000002.10:g.189623472_189623476del	NCBI36
NG_011799.1:g.134380_134384del
NG_011799.2:g.134380_134384del
NG_011799.3:g.179802_179806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+69_3039+73del MANE Select	ENSP00000364000.3:n.3039+69_3039+73del
ENST00000374866.7:c.3039+69_3039+73del	ENSP00000364000.3:n.3039+69_3039+73del
ENST00000618828.1:c.1878+69_1878+73del	ENSP00000482184.1:n.1878+69_1878+73del
NM_000393.3:c.3039+69_3039+73del	NP_000384.2:n.3039+69_3039+73del
XM_011510573.1:c.2901+69_2901+73del	XP_011508875.1:n.2901+69_2901+73del
NM_000393.4:c.3039+69_3039+73del	NP_000384.2:n.3039+69_3039+73del
XM_011510573.3:c.2901+69_2901+73del	XP_011508875.1:n.2901+69_2901+73del
NM_000393.5:c.3039+69_3039+73del MANE Select	NP_000384.2:n.3039+69_3039+73del