Canonical Allele Identifier: CA2450721569

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694812_108694813delinsCA , CM000685.2:g.108694812_108694813delinsCA	GRCh38
NC_000023.10:g.107938042_107938043delinsCA , CM000685.1:g.107938042_107938043delinsCA	GRCh37
NC_000023.9:g.107824698_107824699delinsCA	NCBI36
NG_011977.1:g.259889_259890delinsCA
NG_011977.2:g.259889_259890delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4712_4713delinsCA MANE Select	ENSP00000331902.7:p.Ala1571=
ENST00000361603.7:c.4694_4695delinsCA	ENSP00000354505.2:p.Ala1565=
ENST00000510690.2:n.1206_1207delinsCA
ENST00000644079.1:n.1198_1199delinsCA
ENST00000328300.10:c.4712_4713delinsCA	ENSP00000331902.6:p.Ala1571=
ENST00000361603.6:c.4694_4695delinsCA	ENSP00000354505.2:p.Ala1565=
ENST00000504541.1:c.110_111delinsCA	ENSP00000424845.1:p.Ala37=
ENST00000515658.1:c.325-1485_325-1484delinsCA
NM_000495.4:c.4694_4695delinsCA	NP_000486.1:p.Ala1565=
NM_033380.2:c.4712_4713delinsCA	NP_203699.1:p.Ala1571=
XM_005262070.2:c.4703_4704delinsCA	XP_005262127.1:p.Ala1568=
XM_006724616.2:c.4712_4713delinsCA	XP_006724679.1:p.Ala1571=
XM_011530849.1:c.4388_4389delinsCA	XP_011529151.1:p.Ala1463=
XM_011530851.1:c.2285_2286delinsCA	XP_011529153.1:p.Ala762=
XM_011530849.2:c.4727_4728delinsCA	XP_011529151.2:p.Ala1576=
XM_017029259.2:c.4718_4719delinsCA	XP_016884748.1:p.Ala1573=
XM_017029260.1:c.4709_4710delinsCA	XP_016884749.1:p.Ala1570=
XM_017029263.2:c.3047_3048delinsCA	XP_016884752.1:p.Ala1016=
NM_000495.5:c.4694_4695delinsCA	NP_000486.1:p.Ala1565=
NM_033380.3:c.4712_4713delinsCA MANE Select	NP_203699.1:p.Ala1571=