Canonical Allele Identifier: CA2662317445

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189046059-TATTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046066_189046069del , CM000664.2:g.189046066_189046069del	GRCh38
NC_000002.11:g.189910792_189910795del , CM000664.1:g.189910792_189910795del	GRCh37
NC_000002.10:g.189619037_189619040del	NCBI36
NG_011799.1:g.138817_138820del
NG_011799.2:g.138817_138820del
NG_011799.3:g.184239_184242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-156_3202-153del MANE Select	ENSP00000364000.3:n.3202-156_3202-153del
ENST00000374866.7:c.3202-156_3202-153del	ENSP00000364000.3:n.3202-156_3202-153del
ENST00000618828.1:c.2041-156_2041-153del	ENSP00000482184.1:n.2041-156_2041-153del
NM_000393.3:c.3202-156_3202-153del	NP_000384.2:n.3202-156_3202-153del
XM_011510573.1:c.3064-156_3064-153del	XP_011508875.1:n.3064-156_3064-153del
NM_000393.4:c.3202-156_3202-153del	NP_000384.2:n.3202-156_3202-153del
XM_011510573.3:c.3064-156_3064-153del	XP_011508875.1:n.3064-156_3064-153del
NM_000393.5:c.3202-156_3202-153del MANE Select	NP_000384.2:n.3202-156_3202-153del