Canonical Allele Identifier: CA2662314156

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058904-ATTTTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058911_189058916del , CM000664.2:g.189058911_189058916del	GRCh38
NC_000002.11:g.189923637_189923642del , CM000664.1:g.189923637_189923642del	GRCh37
NC_000002.10:g.189631882_189631887del	NCBI36
NG_011799.1:g.125970_125975del
NG_011799.2:g.125970_125975del
NG_011799.3:g.171392_171397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-17_2086-12del MANE Select	ENSP00000364000.3:n.2086-17_2086-12del
ENST00000374866.7:c.2086-17_2086-12del	ENSP00000364000.3:n.2086-17_2086-12del
ENST00000470524.2:n.192-17_192-12del
ENST00000618828.1:c.925-17_925-12del	ENSP00000482184.1:n.925-17_925-12del
NM_000393.3:c.2086-17_2086-12del	NP_000384.2:n.2086-17_2086-12del
XM_011510573.1:c.1948-17_1948-12del	XP_011508875.1:n.1948-17_1948-12del
NM_000393.4:c.2086-17_2086-12del	NP_000384.2:n.2086-17_2086-12del
XM_011510573.3:c.1948-17_1948-12del	XP_011508875.1:n.1948-17_1948-12del
NM_000393.5:c.2086-17_2086-12del MANE Select	NP_000384.2:n.2086-17_2086-12del