Canonical Allele Identifier: CA2579677299

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694895_108694896del , CM000685.2:g.108694895_108694896del	GRCh38
NC_000023.10:g.107938125_107938126del , CM000685.1:g.107938125_107938126del	GRCh37
NC_000023.9:g.107824781_107824782del	NCBI36
NG_011977.1:g.259972_259973del
NG_011977.2:g.259972_259973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4795_4796del MANE Select	ENSP00000331902.7:p.Leu1599ValfsTer?
ENST00000361603.7:c.4777_4778del	ENSP00000354505.2:p.Leu1593ValfsTer?
ENST00000510690.2:n.1289_1290del
ENST00000644079.1:n.1281_1282del
ENST00000328300.10:c.4795_4796del	ENSP00000331902.6:p.Leu1599ValfsTer?
ENST00000361603.6:c.4777_4778del	ENSP00000354505.2:p.Leu1593ValfsTer?
ENST00000504541.1:c.193_194del	ENSP00000424845.1:p.Leu65ValfsTer16
ENST00000515658.1:c.325-1402_325-1401del
NM_000495.4:c.4777_4778del	NP_000486.1:p.Leu1593ValfsTer?
NM_033380.2:c.4795_4796del	NP_203699.1:p.Leu1599ValfsTer?
XM_005262070.2:c.4786_4787del	XP_005262127.1:p.Leu1596ValfsTer?
XM_006724616.2:c.4795_4796del	XP_006724679.1:p.Leu1599ValfsTer?
XM_011530849.1:c.4471_4472del	XP_011529151.1:p.Leu1491ValfsTer?
XM_011530851.1:c.2368_2369del	XP_011529153.1:p.Leu790ValfsTer?
XM_011530849.2:c.4810_4811del	XP_011529151.2:p.Leu1604ValfsTer?
XM_017029259.2:c.4801_4802del	XP_016884748.1:p.Leu1601ValfsTer?
XM_017029260.1:c.4792_4793del	XP_016884749.1:p.Leu1598ValfsTer?
XM_017029263.2:c.3130_3131del	XP_016884752.1:p.Leu1044ValfsTer?
NM_000495.5:c.4777_4778del	NP_000486.1:p.Leu1593ValfsTer?
NM_033380.3:c.4795_4796del MANE Select	NP_203699.1:p.Leu1599ValfsTer?