Canonical Allele Identifier: CA1315419012

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046051_189046056delinsCTTATA , CM000664.2:g.189046051_189046056delinsCTTATA	GRCh38
NC_000002.11:g.189910777_189910782delinsCTTATA , CM000664.1:g.189910777_189910782delinsCTTATA	GRCh37
NC_000002.10:g.189619022_189619027delinsCTTATA	NCBI36
NG_011799.1:g.138824_138829delinsTATAAG
NG_011799.2:g.138824_138829delinsTATAAG
NG_011799.3:g.184246_184251delinsTATAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-149_3202-144delinsTATAAG MANE Select	ENSP00000364000.3:n.3202-149_3202-144delinsTATAAG
ENST00000374866.7:c.3202-149_3202-144delinsTATAAG	ENSP00000364000.3:n.3202-149_3202-144delinsTATAAG
ENST00000618828.1:c.2041-149_2041-144delinsTATAAG	ENSP00000482184.1:n.2041-149_2041-144delinsTATAAG
NM_000393.3:c.3202-149_3202-144delinsTATAAG	NP_000384.2:n.3202-149_3202-144delinsTATAAG
XM_011510573.1:c.3064-149_3064-144delinsTATAAG	XP_011508875.1:n.3064-149_3064-144delinsTATAAG
NM_000393.4:c.3202-149_3202-144delinsTATAAG	NP_000384.2:n.3202-149_3202-144delinsTATAAG
XM_011510573.3:c.3064-149_3064-144delinsTATAAG	XP_011508875.1:n.3064-149_3064-144delinsTATAAG
NM_000393.5:c.3202-149_3202-144delinsTATAAG MANE Select	NP_000384.2:n.3202-149_3202-144delinsTATAAG