Canonical Allele Identifier: CA2450717278

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068441018

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681929del , CM000685.2:g.108681929del	GRCh38
NC_000023.10:g.107925159del , CM000685.1:g.107925159del	GRCh37
NC_000023.9:g.107811815del	NCBI36
NG_011977.1:g.247006del
NG_011977.2:g.247006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4216+41del MANE Select	ENSP00000331902.7:n.4216+41del
ENST00000361603.7:c.4198+41del	ENSP00000354505.2:n.4198+41del
ENST00000510690.2:n.710+41del
ENST00000328300.10:c.4216+41del	ENSP00000331902.6:n.4216+41del
ENST00000361603.6:c.4198+41del	ENSP00000354505.2:n.4198+41del
ENST00000489230.1:n.619+41del
ENST00000515658.1:c.12+41del
NM_000495.4:c.4198+41del	NP_000486.1:n.4198+41del
NM_033380.2:c.4216+41del	NP_203699.1:n.4216+41del
XM_005262070.2:c.4207+41del	XP_005262127.1:n.4207+41del
XM_006724616.2:c.4216+41del	XP_006724679.1:n.4216+41del
XM_011530849.1:c.3892+41del	XP_011529151.1:n.3892+41del
XM_011530851.1:c.1789+41del	XP_011529153.1:n.1789+41del
XM_011530849.2:c.4231+41del	XP_011529151.2:n.4231+41del
XM_017029259.2:c.4222+41del	XP_016884748.1:n.4222+41del
XM_017029260.1:c.4213+41del	XP_016884749.1:n.4213+41del
XM_017029263.2:c.2551+41del	XP_016884752.1:n.2551+41del
NM_000495.5:c.4198+41del	NP_000486.1:n.4198+41del
NM_033380.3:c.4216+41del MANE Select	NP_203699.1:n.4216+41del