Canonical Allele Identifier: CA2695235220

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108621815_108621819del , CM000685.2:g.108621815_108621819del	GRCh38
NC_000023.10:g.107865045_107865049del , CM000685.1:g.107865045_107865049del	GRCh37
NC_000023.9:g.107751701_107751705del	NCBI36
NG_011977.1:g.186892_186896del
NG_011977.2:g.186892_186896del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2690_2694del MANE Select	ENSP00000331902.7:p.Glu897GlyfsTer24
ENST00000361603.7:c.2690_2694del	ENSP00000354505.2:p.Glu897GlyfsTer24
ENST00000328300.10:c.2690_2694del	ENSP00000331902.6:p.Glu897GlyfsTer24
ENST00000361603.6:c.2690_2694del	ENSP00000354505.2:p.Glu897GlyfsTer24
ENST00000483338.1:n.2146_2150del
NM_000495.4:c.2690_2694del	NP_000486.1:p.Glu897GlyfsTer24
NM_033380.2:c.2690_2694del	NP_203699.1:p.Glu897GlyfsTer24
XM_005262070.2:c.2690_2694del	XP_005262127.1:p.Glu897GlyfsTer24
XM_005262072.3:c.2690_2694del	XP_005262129.1:p.Glu897GlyfsTer24
XM_006724616.2:c.2690_2694del	XP_006724679.1:p.Glu897GlyfsTer24
XM_011530849.1:c.2366_2370del	XP_011529151.1:p.Glu789GlyfsTer24
XM_011530850.1:c.2690_2694del	XP_011529152.1:p.Glu897GlyfsTer24
XM_011530851.1:c.263_267del	XP_011529153.1:p.Glu88GlyfsTer24
XM_011530849.2:c.2705_2709del	XP_011529151.2:p.Glu902GlyfsTer24
XM_017029259.2:c.2705_2709del	XP_016884748.1:p.Glu902GlyfsTer24
XM_017029260.1:c.2705_2709del	XP_016884749.1:p.Glu902GlyfsTer24
XM_017029261.1:c.2705_2709del	XP_016884750.1:p.Glu902GlyfsTer24
XM_017029262.2:c.2705_2709del	XP_016884751.1:p.Glu902GlyfsTer24
XM_017029263.2:c.1025_1029del	XP_016884752.1:p.Glu342GlyfsTer24
NM_000495.5:c.2690_2694del	NP_000486.1:p.Glu897GlyfsTer24
NM_033380.3:c.2690_2694del MANE Select	NP_203699.1:p.Glu897GlyfsTer24