Canonical Allele Identifier: CA2450718672
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108685795_108685796delinsAG , CM000685.2:g.108685795_108685796delinsAG GRCh38
NC_000023.10:g.107929025_107929026delinsAG , CM000685.1:g.107929025_107929026delinsAG GRCh37
NC_000023.9:g.107815681_107815682delinsAG NCBI36
NG_011977.1:g.250872_250873delinsAG
NG_011977.2:g.250872_250873delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4217-236_4217-235delinsAG MANE Select ENSP00000331902.7:n.4217-236_4217-235delinsAG
ENST00000361603.7:c.4199-236_4199-235delinsAG ENSP00000354505.2:n.4199-236_4199-235delinsAG
ENST00000510690.2:n.711-236_711-235delinsAG
ENST00000328300.10:c.4217-236_4217-235delinsAG ENSP00000331902.6:n.4217-236_4217-235delinsAG
ENST00000361603.6:c.4199-236_4199-235delinsAG ENSP00000354505.2:n.4199-236_4199-235delinsAG
ENST00000489230.1:n.620-236_620-235delinsAG
ENST00000515658.1:c.13-236_13-235delinsAG
NM_000495.4:c.4199-236_4199-235delinsAG NP_000486.1:n.4199-236_4199-235delinsAG
NM_033380.2:c.4217-236_4217-235delinsAG NP_203699.1:n.4217-236_4217-235delinsAG
XM_005262070.2:c.4208-236_4208-235delinsAG XP_005262127.1:n.4208-236_4208-235delinsAG
XM_006724616.2:c.4217-236_4217-235delinsAG XP_006724679.1:n.4217-236_4217-235delinsAG
XM_011530849.1:c.3893-236_3893-235delinsAG XP_011529151.1:n.3893-236_3893-235delinsAG
XM_011530851.1:c.1790-236_1790-235delinsAG XP_011529153.1:n.1790-236_1790-235delinsAG
XM_011530849.2:c.4232-236_4232-235delinsAG XP_011529151.2:n.4232-236_4232-235delinsAG
XM_017029259.2:c.4223-236_4223-235delinsAG XP_016884748.1:n.4223-236_4223-235delinsAG
XM_017029260.1:c.4214-236_4214-235delinsAG XP_016884749.1:n.4214-236_4214-235delinsAG
XM_017029263.2:c.2552-236_2552-235delinsAG XP_016884752.1:n.2552-236_2552-235delinsAG
NM_000495.5:c.4199-236_4199-235delinsAG NP_000486.1:n.4199-236_4199-235delinsAG
NM_033380.3:c.4217-236_4217-235delinsAG MANE Select NP_203699.1:n.4217-236_4217-235delinsAG