Canonical Allele Identifier: CA2577186997

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098690_189098694del , CM000664.2:g.189098690_189098694del	GRCh38
NC_000002.11:g.189963416_189963420del , CM000664.1:g.189963416_189963420del	GRCh37
NC_000002.10:g.189671661_189671665del	NCBI36
NG_011799.1:g.86188_86192del
NG_011799.2:g.86188_86192del
NG_011799.3:g.131610_131614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+35_402+39del MANE Select	ENSP00000364000.3:n.402+35_402+39del
ENST00000649966.1:c.264+35_264+39del	ENSP00000496785.1:n.264+35_264+39del
ENST00000374866.7:c.402+35_402+39del	ENSP00000364000.3:n.402+35_402+39del
ENST00000618828.1:c.-229+35_-229+39del	ENSP00000482184.1:n.-229+35_-229+39del
NM_000393.3:c.402+35_402+39del	NP_000384.2:n.402+35_402+39del
XM_011510573.1:c.264+35_264+39del	XP_011508875.1:n.264+35_264+39del
NM_000393.4:c.402+35_402+39del	NP_000384.2:n.402+35_402+39del
XM_011510573.3:c.264+35_264+39del	XP_011508875.1:n.264+35_264+39del
NM_000393.5:c.402+35_402+39del MANE Select	NP_000384.2:n.402+35_402+39del