Canonical Allele Identifier: CA891843945
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108621890_108621891delinsTT , CM000685.2:g.108621890_108621891delinsTT GRCh38
NC_000023.10:g.107865120_107865121delinsTT , CM000685.1:g.107865120_107865121delinsTT GRCh37
NC_000023.9:g.107751776_107751777delinsTT NCBI36
NG_011977.1:g.186967_186968delinsTT
NG_011977.2:g.186967_186968delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2765_2766delinsTT MANE Select ENSP00000331902.7:p.Lys922Ile
ENST00000361603.7:c.2765_2766delinsTT ENSP00000354505.2:p.Lys922Ile
ENST00000328300.10:c.2765_2766delinsTT ENSP00000331902.6:p.Lys922Ile
ENST00000361603.6:c.2765_2766delinsTT ENSP00000354505.2:p.Lys922Ile
ENST00000483338.1:n.2221_2222delinsTT
NM_000495.4:c.2765_2766delinsTT NP_000486.1:p.Lys922Ile
NM_033380.2:c.2765_2766delinsTT NP_203699.1:p.Lys922Ile
XM_005262070.2:c.2765_2766delinsTT XP_005262127.1:p.Lys922Ile
XM_005262072.3:c.2765_2766delinsTT XP_005262129.1:p.Lys922Ile
XM_006724616.2:c.2765_2766delinsTT XP_006724679.1:p.Lys922Ile
XM_011530849.1:c.2441_2442delinsTT XP_011529151.1:p.Lys814Ile
XM_011530850.1:c.2765_2766delinsTT XP_011529152.1:p.Lys922Ile
XM_011530851.1:c.338_339delinsTT XP_011529153.1:p.Lys113Ile
XM_011530849.2:c.2780_2781delinsTT XP_011529151.2:p.Lys927Ile
XM_017029259.2:c.2780_2781delinsTT XP_016884748.1:p.Lys927Ile
XM_017029260.1:c.2780_2781delinsTT XP_016884749.1:p.Lys927Ile
XM_017029261.1:c.2780_2781delinsTT XP_016884750.1:p.Lys927Ile
XM_017029262.2:c.2780_2781delinsTT XP_016884751.1:p.Lys927Ile
XM_017029263.2:c.1100_1101delinsTT XP_016884752.1:p.Lys367Ile
NM_000495.5:c.2765_2766delinsTT NP_000486.1:p.Lys922Ile
NM_033380.3:c.2765_2766delinsTT MANE Select NP_203699.1:p.Lys922Ile