Canonical Allele Identifier: CA2450696567

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108621818_108621828delinsTGGGTATGATG , CM000685.2:g.108621818_108621828delinsTGGGTATGATG	GRCh38
NC_000023.10:g.107865048_107865058delinsTGGGTATGATG , CM000685.1:g.107865048_107865058delinsTGGGTATGATG	GRCh37
NC_000023.9:g.107751704_107751714delinsTGGGTATGATG	NCBI36
NG_011977.1:g.186895_186905delinsTGGGTATGATG
NG_011977.2:g.186895_186905delinsTGGGTATGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2693_2703delinsTGGGTATGATG MANE Select	ENSP00000331902.7:p.Met898=
ENST00000361603.7:c.2693_2703delinsTGGGTATGATG	ENSP00000354505.2:p.Met898=
ENST00000328300.10:c.2693_2703delinsTGGGTATGATG	ENSP00000331902.6:p.Met898=
ENST00000361603.6:c.2693_2703delinsTGGGTATGATG	ENSP00000354505.2:p.Met898=
ENST00000483338.1:n.2149_2159delinsTGGGTATGATG
NM_000495.4:c.2693_2703delinsTGGGTATGATG	NP_000486.1:p.Met898=
NM_033380.2:c.2693_2703delinsTGGGTATGATG	NP_203699.1:p.Met898=
XM_005262070.2:c.2693_2703delinsTGGGTATGATG	XP_005262127.1:p.Met898=
XM_005262072.3:c.2693_2703delinsTGGGTATGATG	XP_005262129.1:p.Met898=
XM_006724616.2:c.2693_2703delinsTGGGTATGATG	XP_006724679.1:p.Met898=
XM_011530849.1:c.2369_2379delinsTGGGTATGATG	XP_011529151.1:p.Met790=
XM_011530850.1:c.2693_2703delinsTGGGTATGATG	XP_011529152.1:p.Met898=
XM_011530851.1:c.266_276delinsTGGGTATGATG	XP_011529153.1:p.Met89=
XM_011530849.2:c.2708_2718delinsTGGGTATGATG	XP_011529151.2:p.Met903=
XM_017029259.2:c.2708_2718delinsTGGGTATGATG	XP_016884748.1:p.Met903=
XM_017029260.1:c.2708_2718delinsTGGGTATGATG	XP_016884749.1:p.Met903=
XM_017029261.1:c.2708_2718delinsTGGGTATGATG	XP_016884750.1:p.Met903=
XM_017029262.2:c.2708_2718delinsTGGGTATGATG	XP_016884751.1:p.Met903=
XM_017029263.2:c.1028_1038delinsTGGGTATGATG	XP_016884752.1:p.Met343=
NM_000495.5:c.2693_2703delinsTGGGTATGATG	NP_000486.1:p.Met898=
NM_033380.3:c.2693_2703delinsTGGGTATGATG MANE Select	NP_203699.1:p.Met898=