Canonical Allele Identifier: CA2450697344

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624292_108624299delinsCAACCTGG , CM000685.2:g.108624292_108624299delinsCAACCTGG	GRCh38
NC_000023.10:g.107867522_107867529delinsCAACCTGG , CM000685.1:g.107867522_107867529delinsCAACCTGG	GRCh37
NC_000023.9:g.107754178_107754185delinsCAACCTGG	NCBI36
NG_011977.1:g.189369_189376delinsCAACCTGG
NG_011977.2:g.189369_189376delinsCAACCTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2974_2981delinsCAACCTGG MANE Select	ENSP00000331902.7:p.Gln992=
ENST00000361603.7:c.2974_2981delinsCAACCTGG	ENSP00000354505.2:p.Gln992=
ENST00000328300.10:c.2974_2981delinsCAACCTGG	ENSP00000331902.6:p.Gln992=
ENST00000361603.6:c.2974_2981delinsCAACCTGG	ENSP00000354505.2:p.Gln992=
ENST00000483338.1:n.2430_2437delinsCAACCTGG
ENST00000505728.1:c.207_214delinsCAACCTGG
NM_000495.4:c.2974_2981delinsCAACCTGG	NP_000486.1:p.Gln992=
NM_033380.2:c.2974_2981delinsCAACCTGG	NP_203699.1:p.Gln992=
XM_005262070.2:c.2974_2981delinsCAACCTGG	XP_005262127.1:p.Gln992=
XM_005262072.3:c.2974_2981delinsCAACCTGG	XP_005262129.1:p.Gln992=
XM_006724616.2:c.2974_2981delinsCAACCTGG	XP_006724679.1:p.Gln992=
XM_011530849.1:c.2650_2657delinsCAACCTGG	XP_011529151.1:p.Gln884=
XM_011530850.1:c.2974_2981delinsCAACCTGG	XP_011529152.1:p.Gln992=
XM_011530851.1:c.547_554delinsCAACCTGG	XP_011529153.1:p.Gln183=
XM_011530849.2:c.2989_2996delinsCAACCTGG	XP_011529151.2:p.Gln997=
XM_017029259.2:c.2989_2996delinsCAACCTGG	XP_016884748.1:p.Gln997=
XM_017029260.1:c.2989_2996delinsCAACCTGG	XP_016884749.1:p.Gln997=
XM_017029261.1:c.2989_2996delinsCAACCTGG	XP_016884750.1:p.Gln997=
XM_017029262.2:c.2989_2996delinsCAACCTGG	XP_016884751.1:p.Gln997=
XM_017029263.2:c.1309_1316delinsCAACCTGG	XP_016884752.1:p.Gln437=
NM_000495.5:c.2974_2981delinsCAACCTGG	NP_000486.1:p.Gln992=
NM_033380.3:c.2974_2981delinsCAACCTGG MANE Select	NP_203699.1:p.Gln992=