Canonical Allele Identifier: CA891843944

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108621872_108621883delinsT , CM000685.2:g.108621872_108621883delinsT	GRCh38
NC_000023.10:g.107865102_107865113delinsT , CM000685.1:g.107865102_107865113delinsT	GRCh37
NC_000023.9:g.107751758_107751769delinsT	NCBI36
NG_011977.1:g.186949_186960delinsT
NG_011977.2:g.186949_186960delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2747_2758delinsT MANE Select	ENSP00000331902.7:p.Ser916MetfsTer3
ENST00000361603.7:c.2747_2758delinsT	ENSP00000354505.2:p.Ser916MetfsTer3
ENST00000328300.10:c.2747_2758delinsT	ENSP00000331902.6:p.Ser916MetfsTer3
ENST00000361603.6:c.2747_2758delinsT	ENSP00000354505.2:p.Ser916MetfsTer3
ENST00000483338.1:n.2203_2214delinsT
NM_000495.4:c.2747_2758delinsT	NP_000486.1:p.Ser916MetfsTer3
NM_033380.2:c.2747_2758delinsT	NP_203699.1:p.Ser916MetfsTer3
XM_005262070.2:c.2747_2758delinsT	XP_005262127.1:p.Ser916MetfsTer3
XM_005262072.3:c.2747_2758delinsT	XP_005262129.1:p.Ser916MetfsTer3
XM_006724616.2:c.2747_2758delinsT	XP_006724679.1:p.Ser916MetfsTer3
XM_011530849.1:c.2423_2434delinsT	XP_011529151.1:p.Ser808MetfsTer3
XM_011530850.1:c.2747_2758delinsT	XP_011529152.1:p.Ser916MetfsTer3
XM_011530851.1:c.320_331delinsT	XP_011529153.1:p.Ser107MetfsTer3
XM_011530849.2:c.2762_2773delinsT	XP_011529151.2:p.Ser921MetfsTer3
XM_017029259.2:c.2762_2773delinsT	XP_016884748.1:p.Ser921MetfsTer3
XM_017029260.1:c.2762_2773delinsT	XP_016884749.1:p.Ser921MetfsTer3
XM_017029261.1:c.2762_2773delinsT	XP_016884750.1:p.Ser921MetfsTer3
XM_017029262.2:c.2762_2773delinsT	XP_016884751.1:p.Ser921MetfsTer3
XM_017029263.2:c.1082_1093delinsT	XP_016884752.1:p.Ser361MetfsTer3
NM_000495.5:c.2747_2758delinsT	NP_000486.1:p.Ser916MetfsTer3
NM_033380.3:c.2747_2758delinsT MANE Select	NP_203699.1:p.Ser916MetfsTer3