Canonical Allele Identifier: CA2545068648

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108573649_108573650insC , CM000685.2:g.108573649_108573650insC	GRCh38
NC_000023.10:g.107816879_107816880insC , CM000685.1:g.107816879_107816880insC	GRCh37
NC_000023.9:g.107703535_107703536insC	NCBI36
NG_011977.1:g.138726_138727insC
NG_011977.2:g.138726_138727insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.541_542insC MANE Select	ENSP00000331902.7:p.Ile181ThrfsTer?
ENST00000361603.7:c.541_542insC	ENSP00000354505.2:p.Ile181ThrfsTer?
ENST00000328300.10:c.541_542insC	ENSP00000331902.6:p.Ile181ThrfsTer?
ENST00000361603.6:c.541_542insC	ENSP00000354505.2:p.Ile181ThrfsTer?
NM_000495.4:c.541_542insC	NP_000486.1:p.Ile181ThrfsTer?
NM_033380.2:c.541_542insC	NP_203699.1:p.Ile181ThrfsTer?
XM_005262070.2:c.541_542insC	XP_005262127.1:p.Ile181ThrfsTer?
XM_005262072.3:c.541_542insC	XP_005262129.1:p.Ile181ThrfsTer?
XM_006724616.2:c.541_542insC	XP_006724679.1:p.Ile181ThrfsTer?
XM_011530849.1:c.217_218insC	XP_011529151.1:p.Ile73ThrfsTer?
XM_011530850.1:c.541_542insC	XP_011529152.1:p.Ile181ThrfsTer?
XM_011530849.2:c.556_557insC	XP_011529151.2:p.Ile186ThrfsTer?
XM_017029259.2:c.556_557insC	XP_016884748.1:p.Ile186ThrfsTer?
XM_017029260.1:c.556_557insC	XP_016884749.1:p.Ile186ThrfsTer?
XM_017029261.1:c.556_557insC	XP_016884750.1:p.Ile186ThrfsTer?
XM_017029262.2:c.556_557insC	XP_016884751.1:p.Ile186ThrfsTer?
NM_000495.5:c.541_542insC	NP_000486.1:p.Ile181ThrfsTer?
NM_033380.3:c.541_542insC MANE Select	NP_203699.1:p.Ile181ThrfsTer?