Canonical Allele Identifier: CA2695235646

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108666504_108666516del , CM000685.2:g.108666504_108666516del	GRCh38
NC_000023.10:g.107909734_107909746del , CM000685.1:g.107909734_107909746del	GRCh37
NC_000023.9:g.107796390_107796402del	NCBI36
NG_011977.1:g.231581_231593del
NG_011977.2:g.231581_231593del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3463_3475del MANE Select	ENSP00000331902.7:p.Gly1155AsnfsTer?
ENST00000361603.7:c.3463_3475del	ENSP00000354505.2:p.Gly1155AsnfsTer?
ENST00000328300.10:c.3463_3475del	ENSP00000331902.6:p.Gly1155AsnfsTer?
ENST00000361603.6:c.3463_3475del	ENSP00000354505.2:p.Gly1155AsnfsTer?
NM_000495.4:c.3463_3475del	NP_000486.1:p.Gly1155AsnfsTer?
NM_033380.2:c.3463_3475del	NP_203699.1:p.Gly1155AsnfsTer?
XM_005262070.2:c.3463_3475del	XP_005262127.1:p.Gly1155AsnfsTer?
XM_006724616.2:c.3463_3475del	XP_006724679.1:p.Gly1155AsnfsTer?
XM_011530849.1:c.3139_3151del	XP_011529151.1:p.Gly1047AsnfsTer?
XM_011530850.1:c.3463_3475del	XP_011529152.1:p.Gly1155AsnfsTer?
XM_011530851.1:c.1036_1048del	XP_011529153.1:p.Gly346AsnfsTer?
XM_011530849.2:c.3478_3490del	XP_011529151.2:p.Gly1160AsnfsTer?
XM_017029259.2:c.3478_3490del	XP_016884748.1:p.Gly1160AsnfsTer?
XM_017029260.1:c.3478_3490del	XP_016884749.1:p.Gly1160AsnfsTer?
XM_017029261.1:c.3478_3490del	XP_016884750.1:p.Gly1160AsnfsTer?
XM_017029262.2:c.3478_3490del	XP_016884751.1:p.Gly1160AsnfsTer?
XM_017029263.2:c.1798_1810del	XP_016884752.1:p.Gly600AsnfsTer?
NM_000495.5:c.3463_3475del	NP_000486.1:p.Gly1155AsnfsTer?
NM_033380.3:c.3463_3475del MANE Select	NP_203699.1:p.Gly1155AsnfsTer?