Canonical Allele Identifier: CA2516571240

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694928_108694929insCGAA , CM000685.2:g.108694928_108694929insCGAA	GRCh38
NC_000023.10:g.107938158_107938159insCGAA , CM000685.1:g.107938158_107938159insCGAA	GRCh37
NC_000023.9:g.107824814_107824815insCGAA	NCBI36
NG_011977.1:g.260005_260006insCGAA
NG_011977.2:g.260005_260006insCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4821+7_4821+8insCGAA MANE Select	ENSP00000331902.7:n.4821+7_4821+8insCGAA
ENST00000361603.7:c.4803+7_4803+8insCGAA	ENSP00000354505.2:n.4803+7_4803+8insCGAA
ENST00000510690.2:n.1315+7_1315+8insCGAA
ENST00000644079.1:n.1314_1315insCGAA
ENST00000328300.10:c.4821+7_4821+8insCGAA	ENSP00000331902.6:n.4821+7_4821+8insCGAA
ENST00000361603.6:c.4803+7_4803+8insCGAA	ENSP00000354505.2:n.4803+7_4803+8insCGAA
ENST00000504541.1:c.219+7_219+8insCGAA	ENSP00000424845.1:n.219+7_219+8insCGAA
ENST00000515658.1:c.325-1369_325-1368insCGAA
NM_000495.4:c.4803+7_4803+8insCGAA	NP_000486.1:n.4803+7_4803+8insCGAA
NM_033380.2:c.4821+7_4821+8insCGAA	NP_203699.1:n.4821+7_4821+8insCGAA
XM_005262070.2:c.4812+7_4812+8insCGAA	XP_005262127.1:n.4812+7_4812+8insCGAA
XM_006724616.2:c.4821+7_4821+8insCGAA	XP_006724679.1:n.4821+7_4821+8insCGAA
XM_011530849.1:c.4497+7_4497+8insCGAA	XP_011529151.1:n.4497+7_4497+8insCGAA
XM_011530851.1:c.2394+7_2394+8insCGAA	XP_011529153.1:n.2394+7_2394+8insCGAA
XM_011530849.2:c.4836+7_4836+8insCGAA	XP_011529151.2:n.4836+7_4836+8insCGAA
XM_017029259.2:c.4827+7_4827+8insCGAA	XP_016884748.1:n.4827+7_4827+8insCGAA
XM_017029260.1:c.4818+7_4818+8insCGAA	XP_016884749.1:n.4818+7_4818+8insCGAA
XM_017029263.2:c.3156+7_3156+8insCGAA	XP_016884752.1:n.3156+7_3156+8insCGAA
NM_000495.5:c.4803+7_4803+8insCGAA	NP_000486.1:n.4803+7_4803+8insCGAA
NM_033380.3:c.4821+7_4821+8insCGAA MANE Select	NP_203699.1:n.4821+7_4821+8insCGAA