Canonical Allele Identifier: CA2695235628

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108598735_108598736del , CM000685.2:g.108598735_108598736del	GRCh38
NC_000023.10:g.107841965_107841966del , CM000685.1:g.107841965_107841966del	GRCh37
NC_000023.9:g.107728621_107728622del	NCBI36
NG_011977.1:g.163812_163813del
NG_011977.2:g.163812_163813del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.1813_1814del MANE Select	ENSP00000331902.7:p.Pro605TrpfsTer28
ENST00000361603.7:c.1813_1814del	ENSP00000354505.2:p.Pro605TrpfsTer28
ENST00000328300.10:c.1813_1814del	ENSP00000331902.6:p.Pro605TrpfsTer28
ENST00000361603.6:c.1813_1814del	ENSP00000354505.2:p.Pro605TrpfsTer28
ENST00000483338.1:n.1269_1270del
NM_000495.4:c.1813_1814del	NP_000486.1:p.Pro605TrpfsTer28
NM_033380.2:c.1813_1814del	NP_203699.1:p.Pro605TrpfsTer28
XM_005262070.2:c.1813_1814del	XP_005262127.1:p.Pro605TrpfsTer28
XM_005262072.3:c.1813_1814del	XP_005262129.1:p.Pro605TrpfsTer28
XM_006724616.2:c.1813_1814del	XP_006724679.1:p.Pro605TrpfsTer28
XM_011530849.1:c.1489_1490del	XP_011529151.1:p.Pro497TrpfsTer28
XM_011530850.1:c.1813_1814del	XP_011529152.1:p.Pro605TrpfsTer28
XM_011530849.2:c.1828_1829del	XP_011529151.2:p.Pro610TrpfsTer28
XM_017029259.2:c.1828_1829del	XP_016884748.1:p.Pro610TrpfsTer28
XM_017029260.1:c.1828_1829del	XP_016884749.1:p.Pro610TrpfsTer28
XM_017029261.1:c.1828_1829del	XP_016884750.1:p.Pro610TrpfsTer28
XM_017029262.2:c.1828_1829del	XP_016884751.1:p.Pro610TrpfsTer28
XM_017029263.2:c.148_149del	XP_016884752.1:p.Pro50TrpfsTer28
NM_000495.5:c.1813_1814del	NP_000486.1:p.Pro605TrpfsTer28
NM_033380.3:c.1813_1814del MANE Select	NP_203699.1:p.Pro605TrpfsTer28