Canonical Allele Identifier: CA645617759

Gene: COL4A5

Linked Data

• COSMIC: COSM4566654 ; COSM4566655

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687526_108687527delinsAA , CM000685.2:g.108687526_108687527delinsAA	GRCh38
NC_000023.10:g.107930756_107930757delinsAA , CM000685.1:g.107930756_107930757delinsAA	GRCh37
NC_000023.9:g.107817412_107817413delinsAA	NCBI36
NG_011977.1:g.252603_252604delinsAA
NG_011977.2:g.252603_252604delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4360_4361delinsAA MANE Select	ENSP00000331902.7:p.Gly1454Asn
ENST00000361603.7:c.4342_4343delinsAA	ENSP00000354505.2:p.Gly1448Asn
ENST00000510690.2:n.854_855delinsAA
ENST00000328300.10:c.4360_4361delinsAA	ENSP00000331902.6:p.Gly1454Asn
ENST00000361603.6:c.4342_4343delinsAA	ENSP00000354505.2:p.Gly1448Asn
ENST00000515658.1:c.156_157delinsAA
NM_000495.4:c.4342_4343delinsAA	NP_000486.1:p.Gly1448Asn
NM_033380.2:c.4360_4361delinsAA	NP_203699.1:p.Gly1454Asn
XM_005262070.2:c.4351_4352delinsAA	XP_005262127.1:p.Gly1451Asn
XM_006724616.2:c.4360_4361delinsAA	XP_006724679.1:p.Gly1454Asn
XM_011530849.1:c.4036_4037delinsAA	XP_011529151.1:p.Gly1346Asn
XM_011530851.1:c.1933_1934delinsAA	XP_011529153.1:p.Gly645Asn
XM_011530849.2:c.4375_4376delinsAA	XP_011529151.2:p.Gly1459Asn
XM_017029259.2:c.4366_4367delinsAA	XP_016884748.1:p.Gly1456Asn
XM_017029260.1:c.4357_4358delinsAA	XP_016884749.1:p.Gly1453Asn
XM_017029263.2:c.2695_2696delinsAA	XP_016884752.1:p.Gly899Asn
NM_000495.5:c.4342_4343delinsAA	NP_000486.1:p.Gly1448Asn
NM_033380.3:c.4360_4361delinsAA MANE Select	NP_203699.1:p.Gly1454Asn