Canonical Allele Identifier: CA2739290550

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694831_108694839dup , CM000685.2:g.108694831_108694839dup	GRCh38
NC_000023.10:g.107938061_107938069dup , CM000685.1:g.107938061_107938069dup	GRCh37
NC_000023.9:g.107824717_107824725dup	NCBI36
NG_011977.1:g.259908_259916dup
NG_011977.2:g.259908_259916dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4731_4739dup MANE Select	ENSP00000331902.7:p.Ile1580_Ala1581insValValIle
ENST00000361603.7:c.4713_4721dup	ENSP00000354505.2:p.Ile1574_Ala1575insValValIle
ENST00000510690.2:n.1225_1233dup
ENST00000644079.1:n.1217_1225dup
ENST00000328300.10:c.4731_4739dup	ENSP00000331902.6:p.Ile1580_Ala1581insValValIle
ENST00000361603.6:c.4713_4721dup	ENSP00000354505.2:p.Ile1574_Ala1575insValValIle
ENST00000504541.1:c.129_137dup	ENSP00000424845.1:p.Ile46_Ala47insValValIle
ENST00000515658.1:c.325-1466_325-1458dup
NM_000495.4:c.4713_4721dup	NP_000486.1:p.Ile1574_Ala1575insValValIle
NM_033380.2:c.4731_4739dup	NP_203699.1:p.Ile1580_Ala1581insValValIle
XM_005262070.2:c.4722_4730dup	XP_005262127.1:p.Ile1577_Ala1578insValValIle
XM_006724616.2:c.4731_4739dup	XP_006724679.1:p.Ile1580_Ala1581insValValIle
XM_011530849.1:c.4407_4415dup	XP_011529151.1:p.Ile1472_Ala1473insValValIle
XM_011530851.1:c.2304_2312dup	XP_011529153.1:p.Ile771_Ala772insValValIle
XM_011530849.2:c.4746_4754dup	XP_011529151.2:p.Ile1585_Ala1586insValValIle
XM_017029259.2:c.4737_4745dup	XP_016884748.1:p.Ile1582_Ala1583insValValIle
XM_017029260.1:c.4728_4736dup	XP_016884749.1:p.Ile1579_Ala1580insValValIle
XM_017029263.2:c.3066_3074dup	XP_016884752.1:p.Ile1025_Ala1026insValValIle
NM_000495.5:c.4713_4721dup	NP_000486.1:p.Ile1574_Ala1575insValValIle
NM_033380.3:c.4731_4739dup MANE Select	NP_203699.1:p.Ile1580_Ala1581insValValIle