Canonical Allele Identifier: CA2695235256

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695425del , CM000685.2:g.108695425del	GRCh38
NC_000023.10:g.107938655del , CM000685.1:g.107938655del	GRCh37
NC_000023.9:g.107825311del	NCBI36
NG_011977.1:g.260502del
NG_011977.2:g.260502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4980del MANE Select	ENSP00000331902.7:p.Ser1661GlnfsTer12
ENST00000361603.7:c.4962del	ENSP00000354505.2:p.Ser1655GlnfsTer12
ENST00000510690.2:n.1474del
ENST00000644079.1:n.1811del
ENST00000328300.10:c.4980del	ENSP00000331902.6:p.Ser1661GlnfsTer12
ENST00000361603.6:c.4962del	ENSP00000354505.2:p.Ser1655GlnfsTer12
ENST00000504541.1:c.219+504del	ENSP00000424845.1:n.219+504del
ENST00000515658.1:c.325-872del
NM_000495.4:c.4962del	NP_000486.1:p.Ser1655GlnfsTer12
NM_033380.2:c.4980del	NP_203699.1:p.Ser1661GlnfsTer12
XM_005262070.2:c.4971del	XP_005262127.1:p.Ser1658GlnfsTer12
XM_006724616.2:c.4980del	XP_006724679.1:p.Ser1661GlnfsTer12
XM_011530849.1:c.4656del	XP_011529151.1:p.Ser1553GlnfsTer12
XM_011530851.1:c.2553del	XP_011529153.1:p.Ser852GlnfsTer12
XM_011530849.2:c.4995del	XP_011529151.2:p.Ser1666GlnfsTer12
XM_017029259.2:c.4986del	XP_016884748.1:p.Ser1663GlnfsTer12
XM_017029260.1:c.4977del	XP_016884749.1:p.Ser1660GlnfsTer12
XM_017029263.2:c.3315del	XP_016884752.1:p.Ser1106GlnfsTer12
NM_000495.5:c.4962del	NP_000486.1:p.Ser1655GlnfsTer12
NM_033380.3:c.4980del MANE Select	NP_203699.1:p.Ser1661GlnfsTer12