Canonical Allele Identifier: CA645606859

Gene: COL4A5

Linked Data

• COSMIC: COSM1715395

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108622738_108622739delinsAA , CM000685.2:g.108622738_108622739delinsAA	GRCh38
NC_000023.10:g.107865968_107865969delinsAA , CM000685.1:g.107865968_107865969delinsAA	GRCh37
NC_000023.9:g.107752624_107752625delinsAA	NCBI36
NG_011977.1:g.187815_187816delinsAA
NG_011977.2:g.187815_187816delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2830_2831delinsAA MANE Select	ENSP00000331902.7:p.Gly944Lys
ENST00000361603.7:c.2830_2831delinsAA	ENSP00000354505.2:p.Gly944Lys
ENST00000328300.10:c.2830_2831delinsAA	ENSP00000331902.6:p.Gly944Lys
ENST00000361603.6:c.2830_2831delinsAA	ENSP00000354505.2:p.Gly944Lys
ENST00000483338.1:n.2286_2287delinsAA
ENST00000505728.1:c.63_64delinsAA
NM_000495.4:c.2830_2831delinsAA	NP_000486.1:p.Gly944Lys
NM_033380.2:c.2830_2831delinsAA	NP_203699.1:p.Gly944Lys
XM_005262070.2:c.2830_2831delinsAA	XP_005262127.1:p.Gly944Lys
XM_005262072.3:c.2830_2831delinsAA	XP_005262129.1:p.Gly944Lys
XM_006724616.2:c.2830_2831delinsAA	XP_006724679.1:p.Gly944Lys
XM_011530849.1:c.2506_2507delinsAA	XP_011529151.1:p.Gly836Lys
XM_011530850.1:c.2830_2831delinsAA	XP_011529152.1:p.Gly944Lys
XM_011530851.1:c.403_404delinsAA	XP_011529153.1:p.Gly135Lys
XM_011530849.2:c.2845_2846delinsAA	XP_011529151.2:p.Gly949Lys
XM_017029259.2:c.2845_2846delinsAA	XP_016884748.1:p.Gly949Lys
XM_017029260.1:c.2845_2846delinsAA	XP_016884749.1:p.Gly949Lys
XM_017029261.1:c.2845_2846delinsAA	XP_016884750.1:p.Gly949Lys
XM_017029262.2:c.2845_2846delinsAA	XP_016884751.1:p.Gly949Lys
XM_017029263.2:c.1165_1166delinsAA	XP_016884752.1:p.Gly389Lys
NM_000495.5:c.2830_2831delinsAA	NP_000486.1:p.Gly944Lys
NM_033380.3:c.2830_2831delinsAA MANE Select	NP_203699.1:p.Gly944Lys