Canonical Allele Identifier: CA2564287310

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597388_108597389insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG , CM000685.2:g.108597388_108597389insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	GRCh38
NC_000023.10:g.107840618_107840619insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG , CM000685.1:g.107840618_107840619insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	GRCh37
NC_000023.9:g.107727274_107727275insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	NCBI36
NG_011977.1:g.162465_162466insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG
NG_011977.2:g.162465_162466insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG MANE Select	ENSP00000331902.7:p.Ala534ArgfsTer22
ENST00000361603.7:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	ENSP00000354505.2:p.Ala534ArgfsTer22
ENST00000328300.10:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	ENSP00000331902.6:p.Ala534ArgfsTer22
ENST00000361603.6:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	ENSP00000354505.2:p.Ala534ArgfsTer22
ENST00000483338.1:n.1055_1056insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG
NM_000495.4:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	NP_000486.1:p.Ala534ArgfsTer22
NM_033380.2:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	NP_203699.1:p.Ala534ArgfsTer22
XM_005262070.2:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_005262127.1:p.Ala534ArgfsTer22
XM_005262072.3:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_005262129.1:p.Ala534ArgfsTer22
XM_006724616.2:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_006724679.1:p.Ala534ArgfsTer22
XM_011530849.1:c.1275_1276insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_011529151.1:p.Ala426ArgfsTer22
XM_011530850.1:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_011529152.1:p.Ala534ArgfsTer22
XM_011530849.2:c.1614_1615insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_011529151.2:p.Ala539ArgfsTer22
XM_017029259.2:c.1614_1615insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_016884748.1:p.Ala539ArgfsTer22
XM_017029260.1:c.1614_1615insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_016884749.1:p.Ala539ArgfsTer22
XM_017029261.1:c.1614_1615insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_016884750.1:p.Ala539ArgfsTer22
XM_017029262.2:c.1614_1615insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_016884751.1:p.Ala539ArgfsTer22
XM_017029263.2:c.-67_-66insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	XP_016884752.1:n.-67_-66insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG...
NM_000495.5:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG	NP_000486.1:p.Ala534ArgfsTer22
NM_033380.3:c.1599_1600insAGAGCCAAGGAATCAAACAAAGTACAACTTAATG MANE Select	NP_203699.1:p.Ala534ArgfsTer22