Canonical Allele Identifier: CA2450721601

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694886_108694887delinsTG , CM000685.2:g.108694886_108694887delinsTG	GRCh38
NC_000023.10:g.107938116_107938117delinsTG , CM000685.1:g.107938116_107938117delinsTG	GRCh37
NC_000023.9:g.107824772_107824773delinsTG	NCBI36
NG_011977.1:g.259963_259964delinsTG
NG_011977.2:g.259963_259964delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4786_4787delinsTG MANE Select	ENSP00000331902.7:p.Trp1596=
ENST00000361603.7:c.4768_4769delinsTG	ENSP00000354505.2:p.Trp1590=
ENST00000510690.2:n.1280_1281delinsTG
ENST00000644079.1:n.1272_1273delinsTG
ENST00000328300.10:c.4786_4787delinsTG	ENSP00000331902.6:p.Trp1596=
ENST00000361603.6:c.4768_4769delinsTG	ENSP00000354505.2:p.Trp1590=
ENST00000504541.1:c.184_185delinsTG	ENSP00000424845.1:p.Trp62=
ENST00000515658.1:c.325-1411_325-1410delinsTG
NM_000495.4:c.4768_4769delinsTG	NP_000486.1:p.Trp1590=
NM_033380.2:c.4786_4787delinsTG	NP_203699.1:p.Trp1596=
XM_005262070.2:c.4777_4778delinsTG	XP_005262127.1:p.Trp1593=
XM_006724616.2:c.4786_4787delinsTG	XP_006724679.1:p.Trp1596=
XM_011530849.1:c.4462_4463delinsTG	XP_011529151.1:p.Trp1488=
XM_011530851.1:c.2359_2360delinsTG	XP_011529153.1:p.Trp787=
XM_011530849.2:c.4801_4802delinsTG	XP_011529151.2:p.Trp1601=
XM_017029259.2:c.4792_4793delinsTG	XP_016884748.1:p.Trp1598=
XM_017029260.1:c.4783_4784delinsTG	XP_016884749.1:p.Trp1595=
XM_017029263.2:c.3121_3122delinsTG	XP_016884752.1:p.Trp1041=
NM_000495.5:c.4768_4769delinsTG	NP_000486.1:p.Trp1590=
NM_033380.3:c.4786_4787delinsTG MANE Select	NP_203699.1:p.Trp1596=