Canonical Allele Identifier: CA2570581994

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694925_108694928del , CM000685.2:g.108694925_108694928del	GRCh38
NC_000023.10:g.107938155_107938158del , CM000685.1:g.107938155_107938158del	GRCh37
NC_000023.9:g.107824811_107824814del	NCBI36
NG_011977.1:g.260002_260005del
NG_011977.2:g.260002_260005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4821+4_4821+7del MANE Select	ENSP00000331902.7:n.4821+4_4821+7del
ENST00000361603.7:c.4803+4_4803+7del	ENSP00000354505.2:n.4803+4_4803+7del
ENST00000510690.2:n.1315+4_1315+7del
ENST00000644079.1:n.1311_1314del
ENST00000328300.10:c.4821+4_4821+7del	ENSP00000331902.6:n.4821+4_4821+7del
ENST00000361603.6:c.4803+4_4803+7del	ENSP00000354505.2:n.4803+4_4803+7del
ENST00000504541.1:c.219+4_219+7del	ENSP00000424845.1:n.219+4_219+7del
ENST00000515658.1:c.325-1372_325-1369del
NM_000495.4:c.4803+4_4803+7del	NP_000486.1:n.4803+4_4803+7del
NM_033380.2:c.4821+4_4821+7del	NP_203699.1:n.4821+4_4821+7del
XM_005262070.2:c.4812+4_4812+7del	XP_005262127.1:n.4812+4_4812+7del
XM_006724616.2:c.4821+4_4821+7del	XP_006724679.1:n.4821+4_4821+7del
XM_011530849.1:c.4497+4_4497+7del	XP_011529151.1:n.4497+4_4497+7del
XM_011530851.1:c.2394+4_2394+7del	XP_011529153.1:n.2394+4_2394+7del
XM_011530849.2:c.4836+4_4836+7del	XP_011529151.2:n.4836+4_4836+7del
XM_017029259.2:c.4827+4_4827+7del	XP_016884748.1:n.4827+4_4827+7del
XM_017029260.1:c.4818+4_4818+7del	XP_016884749.1:n.4818+4_4818+7del
XM_017029263.2:c.3156+4_3156+7del	XP_016884752.1:n.3156+4_3156+7del
NM_000495.5:c.4803+4_4803+7del	NP_000486.1:n.4803+4_4803+7del
NM_033380.3:c.4821+4_4821+7del MANE Select	NP_203699.1:n.4821+4_4821+7del