Canonical Allele Identifier: CA2450721603

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694895_108694897delinsCTG , CM000685.2:g.108694895_108694897delinsCTG	GRCh38
NC_000023.10:g.107938125_107938127delinsCTG , CM000685.1:g.107938125_107938127delinsCTG	GRCh37
NC_000023.9:g.107824781_107824783delinsCTG	NCBI36
NG_011977.1:g.259972_259974delinsCTG
NG_011977.2:g.259972_259974delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4795_4797delinsCTG MANE Select	ENSP00000331902.7:p.Leu1599=
ENST00000361603.7:c.4777_4779delinsCTG	ENSP00000354505.2:p.Leu1593=
ENST00000510690.2:n.1289_1291delinsCTG
ENST00000644079.1:n.1281_1283delinsCTG
ENST00000328300.10:c.4795_4797delinsCTG	ENSP00000331902.6:p.Leu1599=
ENST00000361603.6:c.4777_4779delinsCTG	ENSP00000354505.2:p.Leu1593=
ENST00000504541.1:c.193_195delinsCTG	ENSP00000424845.1:p.Leu65=
ENST00000515658.1:c.325-1402_325-1400delinsCTG
NM_000495.4:c.4777_4779delinsCTG	NP_000486.1:p.Leu1593=
NM_033380.2:c.4795_4797delinsCTG	NP_203699.1:p.Leu1599=
XM_005262070.2:c.4786_4788delinsCTG	XP_005262127.1:p.Leu1596=
XM_006724616.2:c.4795_4797delinsCTG	XP_006724679.1:p.Leu1599=
XM_011530849.1:c.4471_4473delinsCTG	XP_011529151.1:p.Leu1491=
XM_011530851.1:c.2368_2370delinsCTG	XP_011529153.1:p.Leu790=
XM_011530849.2:c.4810_4812delinsCTG	XP_011529151.2:p.Leu1604=
XM_017029259.2:c.4801_4803delinsCTG	XP_016884748.1:p.Leu1601=
XM_017029260.1:c.4792_4794delinsCTG	XP_016884749.1:p.Leu1598=
XM_017029263.2:c.3130_3132delinsCTG	XP_016884752.1:p.Leu1044=
NM_000495.5:c.4777_4779delinsCTG	NP_000486.1:p.Leu1593=
NM_033380.3:c.4795_4797delinsCTG MANE Select	NP_203699.1:p.Leu1599=