Canonical Allele Identifier: CA2450721584

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694849_108694856delinsCAGTCAGA , CM000685.2:g.108694849_108694856delinsCAGTCAGA	GRCh38
NC_000023.10:g.107938079_107938086delinsCAGTCAGA , CM000685.1:g.107938079_107938086delinsCAGTCAGA	GRCh37
NC_000023.9:g.107824735_107824742delinsCAGTCAGA	NCBI36
NG_011977.1:g.259926_259933delinsCAGTCAGA
NG_011977.2:g.259926_259933delinsCAGTCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4749_4756delinsCAGTCAGA MANE Select	ENSP00000331902.7:p.His1583=
ENST00000361603.7:c.4731_4738delinsCAGTCAGA	ENSP00000354505.2:p.His1577=
ENST00000510690.2:n.1243_1250delinsCAGTCAGA
ENST00000644079.1:n.1235_1242delinsCAGTCAGA
ENST00000328300.10:c.4749_4756delinsCAGTCAGA	ENSP00000331902.6:p.His1583=
ENST00000361603.6:c.4731_4738delinsCAGTCAGA	ENSP00000354505.2:p.His1577=
ENST00000504541.1:c.147_154delinsCAGTCAGA	ENSP00000424845.1:p.His49=
ENST00000515658.1:c.325-1448_325-1441delinsCAGTCAGA
NM_000495.4:c.4731_4738delinsCAGTCAGA	NP_000486.1:p.His1577=
NM_033380.2:c.4749_4756delinsCAGTCAGA	NP_203699.1:p.His1583=
XM_005262070.2:c.4740_4747delinsCAGTCAGA	XP_005262127.1:p.His1580=
XM_006724616.2:c.4749_4756delinsCAGTCAGA	XP_006724679.1:p.His1583=
XM_011530849.1:c.4425_4432delinsCAGTCAGA	XP_011529151.1:p.His1475=
XM_011530851.1:c.2322_2329delinsCAGTCAGA	XP_011529153.1:p.His774=
XM_011530849.2:c.4764_4771delinsCAGTCAGA	XP_011529151.2:p.His1588=
XM_017029259.2:c.4755_4762delinsCAGTCAGA	XP_016884748.1:p.His1585=
XM_017029260.1:c.4746_4753delinsCAGTCAGA	XP_016884749.1:p.His1582=
XM_017029263.2:c.3084_3091delinsCAGTCAGA	XP_016884752.1:p.His1028=
NM_000495.5:c.4731_4738delinsCAGTCAGA	NP_000486.1:p.His1577=
NM_033380.3:c.4749_4756delinsCAGTCAGA MANE Select	NP_203699.1:p.His1583=