Canonical Allele Identifier: CA2450712918

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668331_108668336delinsATGGAG , CM000685.2:g.108668331_108668336delinsATGGAG	GRCh38
NC_000023.10:g.107911561_107911566delinsATGGAG , CM000685.1:g.107911561_107911566delinsATGGAG	GRCh37
NC_000023.9:g.107798217_107798222delinsATGGAG	NCBI36
NG_011977.1:g.233408_233413delinsATGGAG
NG_011977.2:g.233408_233413delinsATGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3617_3622delinsATGGAG MANE Select	ENSP00000331902.7:p.Asp1206=
ENST00000361603.7:c.3617_3622delinsATGGAG	ENSP00000354505.2:p.Asp1206=
ENST00000328300.10:c.3617_3622delinsATGGAG	ENSP00000331902.6:p.Asp1206=
ENST00000361603.6:c.3617_3622delinsATGGAG	ENSP00000354505.2:p.Asp1206=
NM_000495.4:c.3617_3622delinsATGGAG	NP_000486.1:p.Asp1206=
NM_033380.2:c.3617_3622delinsATGGAG	NP_203699.1:p.Asp1206=
XM_005262070.2:c.3617_3622delinsATGGAG	XP_005262127.1:p.Asp1206=
XM_006724616.2:c.3617_3622delinsATGGAG	XP_006724679.1:p.Asp1206=
XM_011530849.1:c.3293_3298delinsATGGAG	XP_011529151.1:p.Asp1098=
XM_011530850.1:c.3617_3622delinsATGGAG	XP_011529152.1:p.Asp1206=
XM_011530851.1:c.1190_1195delinsATGGAG	XP_011529153.1:p.Asp397=
XM_011530849.2:c.3632_3637delinsATGGAG	XP_011529151.2:p.Asp1211=
XM_017029259.2:c.3632_3637delinsATGGAG	XP_016884748.1:p.Asp1211=
XM_017029260.1:c.3632_3637delinsATGGAG	XP_016884749.1:p.Asp1211=
XM_017029261.1:c.3632_3637delinsATGGAG	XP_016884750.1:p.Asp1211=
XM_017029262.2:c.3632_3637delinsATGGAG	XP_016884751.1:p.Asp1211=
XM_017029263.2:c.1952_1957delinsATGGAG	XP_016884752.1:p.Asp651=
NM_000495.5:c.3617_3622delinsATGGAG	NP_000486.1:p.Asp1206=
NM_033380.3:c.3617_3622delinsATGGAG MANE Select	NP_203699.1:p.Asp1206=