Canonical Allele Identifier: CA2694412103

Gene: COL4A5

Linked Data

• gnomAD v4: X-108597237-GCCCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597238_108597242del , CM000685.2:g.108597238_108597242del	GRCh38
NC_000023.10:g.107840468_107840472del , CM000685.1:g.107840468_107840472del	GRCh37
NC_000023.9:g.107727124_107727128del	NCBI36
NG_011977.1:g.162315_162319del
NG_011977.2:g.162315_162319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1588-139_1588-135del MANE Select	ENSP00000331902.7:n.1588-139_1588-135del
ENST00000361603.7:c.1588-139_1588-135del	ENSP00000354505.2:n.1588-139_1588-135del
ENST00000328300.10:c.1588-139_1588-135del	ENSP00000331902.6:n.1588-139_1588-135del
ENST00000361603.6:c.1588-139_1588-135del	ENSP00000354505.2:n.1588-139_1588-135del
ENST00000483338.1:n.1044-139_1044-135del
NM_000495.4:c.1588-139_1588-135del	NP_000486.1:n.1588-139_1588-135del
NM_033380.2:c.1588-139_1588-135del	NP_203699.1:n.1588-139_1588-135del
XM_005262070.2:c.1588-139_1588-135del	XP_005262127.1:n.1588-139_1588-135del
XM_005262072.3:c.1588-139_1588-135del	XP_005262129.1:n.1588-139_1588-135del
XM_006724616.2:c.1588-139_1588-135del	XP_006724679.1:n.1588-139_1588-135del
XM_011530849.1:c.1264-139_1264-135del	XP_011529151.1:n.1264-139_1264-135del
XM_011530850.1:c.1588-139_1588-135del	XP_011529152.1:n.1588-139_1588-135del
XM_011530849.2:c.1603-139_1603-135del	XP_011529151.2:n.1603-139_1603-135del
XM_017029259.2:c.1603-139_1603-135del	XP_016884748.1:n.1603-139_1603-135del
XM_017029260.1:c.1603-139_1603-135del	XP_016884749.1:n.1603-139_1603-135del
XM_017029261.1:c.1603-139_1603-135del	XP_016884750.1:n.1603-139_1603-135del
XM_017029262.2:c.1603-139_1603-135del	XP_016884751.1:n.1603-139_1603-135del
XM_017029263.2:c.-78-139_-78-135del	XP_016884752.1:n.-78-139_-78-135del
NM_000495.5:c.1588-139_1588-135del	NP_000486.1:n.1588-139_1588-135del
NM_033380.3:c.1588-139_1588-135del MANE Select	NP_203699.1:n.1588-139_1588-135del