Canonical Allele Identifier: CA2577186387

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050532-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050535_189050536del , CM000664.2:g.189050535_189050536del	GRCh38
NC_000002.11:g.189915261_189915262del , CM000664.1:g.189915261_189915262del	GRCh37
NC_000002.10:g.189623506_189623507del	NCBI36
NG_011799.1:g.134346_134347del
NG_011799.2:g.134346_134347del
NG_011799.3:g.179768_179769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+35_3039+36del MANE Select	ENSP00000364000.3:n.3039+35_3039+36del
ENST00000374866.7:c.3039+35_3039+36del	ENSP00000364000.3:n.3039+35_3039+36del
ENST00000618828.1:c.1878+35_1878+36del	ENSP00000482184.1:n.1878+35_1878+36del
NM_000393.3:c.3039+35_3039+36del	NP_000384.2:n.3039+35_3039+36del
XM_011510573.1:c.2901+35_2901+36del	XP_011508875.1:n.2901+35_2901+36del
NM_000393.4:c.3039+35_3039+36del	NP_000384.2:n.3039+35_3039+36del
XM_011510573.3:c.2901+35_2901+36del	XP_011508875.1:n.2901+35_2901+36del
NM_000393.5:c.3039+35_3039+36del MANE Select	NP_000384.2:n.3039+35_3039+36del