Canonical Allele Identifier: CA2694413563

Gene: COL4A5

Linked Data

• gnomAD v4: X-108601628-CAAGCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108601629_108601634del , CM000685.2:g.108601629_108601634del	GRCh38
NC_000023.10:g.107844859_107844864del , CM000685.1:g.107844859_107844864del	GRCh37
NC_000023.9:g.107731515_107731520del	NCBI36
NG_011977.1:g.166706_166711del
NG_011977.2:g.166706_166711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2041+144_2041+149del MANE Select	ENSP00000331902.7:n.2041+144_2041+149del
ENST00000361603.7:c.2041+144_2041+149del	ENSP00000354505.2:n.2041+144_2041+149del
ENST00000328300.10:c.2041+144_2041+149del	ENSP00000331902.6:n.2041+144_2041+149del
ENST00000361603.6:c.2041+144_2041+149del	ENSP00000354505.2:n.2041+144_2041+149del
ENST00000483338.1:n.1497+144_1497+149del
NM_000495.4:c.2041+144_2041+149del	NP_000486.1:n.2041+144_2041+149del
NM_033380.2:c.2041+144_2041+149del	NP_203699.1:n.2041+144_2041+149del
XM_005262070.2:c.2041+144_2041+149del	XP_005262127.1:n.2041+144_2041+149del
XM_005262072.3:c.2041+144_2041+149del	XP_005262129.1:n.2041+144_2041+149del
XM_006724616.2:c.2041+144_2041+149del	XP_006724679.1:n.2041+144_2041+149del
XM_011530849.1:c.1717+144_1717+149del	XP_011529151.1:n.1717+144_1717+149del
XM_011530850.1:c.2041+144_2041+149del	XP_011529152.1:n.2041+144_2041+149del
XM_011530849.2:c.2056+144_2056+149del	XP_011529151.2:n.2056+144_2056+149del
XM_017029259.2:c.2056+144_2056+149del	XP_016884748.1:n.2056+144_2056+149del
XM_017029260.1:c.2056+144_2056+149del	XP_016884749.1:n.2056+144_2056+149del
XM_017029261.1:c.2056+144_2056+149del	XP_016884750.1:n.2056+144_2056+149del
XM_017029262.2:c.2056+144_2056+149del	XP_016884751.1:n.2056+144_2056+149del
XM_017029263.2:c.376+144_376+149del	XP_016884752.1:n.376+144_376+149del
NM_000495.5:c.2041+144_2041+149del	NP_000486.1:n.2041+144_2041+149del
NM_033380.3:c.2041+144_2041+149del MANE Select	NP_203699.1:n.2041+144_2041+149del