Canonical Allele Identifier: CA2450696934

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108622956_108622958delinsCAA , CM000685.2:g.108622956_108622958delinsCAA	GRCh38
NC_000023.10:g.107866186_107866188delinsCAA , CM000685.1:g.107866186_107866188delinsCAA	GRCh37
NC_000023.9:g.107752842_107752844delinsCAA	NCBI36
NG_011977.1:g.188033_188035delinsCAA
NG_011977.2:g.188033_188035delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2917+131_2917+133delinsCAA MANE Select	ENSP00000331902.7:n.2917+131_2917+133delinsCAA
ENST00000361603.7:c.2917+131_2917+133delinsCAA	ENSP00000354505.2:n.2917+131_2917+133delinsCAA
ENST00000328300.10:c.2917+131_2917+133delinsCAA	ENSP00000331902.6:n.2917+131_2917+133delinsCAA
ENST00000361603.6:c.2917+131_2917+133delinsCAA	ENSP00000354505.2:n.2917+131_2917+133delinsCAA
ENST00000483338.1:n.2373+131_2373+133delinsCAA
ENST00000505728.1:c.150+131_150+133delinsCAA
NM_000495.4:c.2917+131_2917+133delinsCAA	NP_000486.1:n.2917+131_2917+133delinsCAA
NM_033380.2:c.2917+131_2917+133delinsCAA	NP_203699.1:n.2917+131_2917+133delinsCAA
XM_005262070.2:c.2917+131_2917+133delinsCAA	XP_005262127.1:n.2917+131_2917+133delinsCAA
XM_005262072.3:c.2917+131_2917+133delinsCAA	XP_005262129.1:n.2917+131_2917+133delinsCAA
XM_006724616.2:c.2917+131_2917+133delinsCAA	XP_006724679.1:n.2917+131_2917+133delinsCAA
XM_011530849.1:c.2593+131_2593+133delinsCAA	XP_011529151.1:n.2593+131_2593+133delinsCAA
XM_011530850.1:c.2917+131_2917+133delinsCAA	XP_011529152.1:n.2917+131_2917+133delinsCAA
XM_011530851.1:c.490+131_490+133delinsCAA	XP_011529153.1:n.490+131_490+133delinsCAA
XM_011530849.2:c.2932+131_2932+133delinsCAA	XP_011529151.2:n.2932+131_2932+133delinsCAA
XM_017029259.2:c.2932+131_2932+133delinsCAA	XP_016884748.1:n.2932+131_2932+133delinsCAA
XM_017029260.1:c.2932+131_2932+133delinsCAA	XP_016884749.1:n.2932+131_2932+133delinsCAA
XM_017029261.1:c.2932+131_2932+133delinsCAA	XP_016884750.1:n.2932+131_2932+133delinsCAA
XM_017029262.2:c.2932+131_2932+133delinsCAA	XP_016884751.1:n.2932+131_2932+133delinsCAA
XM_017029263.2:c.1252+131_1252+133delinsCAA	XP_016884752.1:n.1252+131_1252+133delinsCAA
NM_000495.5:c.2917+131_2917+133delinsCAA	NP_000486.1:n.2917+131_2917+133delinsCAA
NM_033380.3:c.2917+131_2917+133delinsCAA MANE Select	NP_203699.1:n.2917+131_2917+133delinsCAA