Canonical Allele Identifier: CA2662319985

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189098713-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098715_189098717del , CM000664.2:g.189098715_189098717del	GRCh38
NC_000002.11:g.189963441_189963443del , CM000664.1:g.189963441_189963443del	GRCh37
NC_000002.10:g.189671686_189671688del	NCBI36
NG_011799.1:g.86164_86166del
NG_011799.2:g.86164_86166del
NG_011799.3:g.131586_131588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+11_402+13del MANE Select	ENSP00000364000.3:n.402+11_402+13del
ENST00000649966.1:c.264+11_264+13del	ENSP00000496785.1:n.264+11_264+13del
ENST00000374866.7:c.402+11_402+13del	ENSP00000364000.3:n.402+11_402+13del
ENST00000618828.1:c.-229+11_-229+13del	ENSP00000482184.1:n.-229+11_-229+13del
NM_000393.3:c.402+11_402+13del	NP_000384.2:n.402+11_402+13del
XM_011510573.1:c.264+11_264+13del	XP_011508875.1:n.264+11_264+13del
NM_000393.4:c.402+11_402+13del	NP_000384.2:n.402+11_402+13del
XM_011510573.3:c.264+11_264+13del	XP_011508875.1:n.264+11_264+13del
NM_000393.5:c.402+11_402+13del MANE Select	NP_000384.2:n.402+11_402+13del