Canonical Allele Identifier: CA2450683815
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108582928_108582929delinsTG , CM000685.2:g.108582928_108582929delinsTG GRCh38
NC_000023.10:g.107826158_107826159delinsTG , CM000685.1:g.107826158_107826159delinsTG GRCh37
NC_000023.9:g.107712814_107712815delinsTG NCBI36
NG_011977.1:g.148005_148006delinsTG
NG_011977.2:g.148005_148006delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.981_982delinsTG MANE Select ENSP00000331902.7:p.Asp327=
ENST00000361603.7:c.981_982delinsTG ENSP00000354505.2:p.Asp327=
ENST00000328300.10:c.981_982delinsTG ENSP00000331902.6:p.Asp327=
ENST00000361603.6:c.981_982delinsTG ENSP00000354505.2:p.Asp327=
ENST00000483338.1:n.437_438delinsTG
NM_000495.4:c.981_982delinsTG NP_000486.1:p.Asp327=
NM_033380.2:c.981_982delinsTG NP_203699.1:p.Asp327=
XM_005262070.2:c.981_982delinsTG XP_005262127.1:p.Asp327=
XM_005262072.3:c.981_982delinsTG XP_005262129.1:p.Asp327=
XM_006724616.2:c.981_982delinsTG XP_006724679.1:p.Asp327=
XM_011530849.1:c.657_658delinsTG XP_011529151.1:p.Asp219=
XM_011530850.1:c.981_982delinsTG XP_011529152.1:p.Asp327=
XM_011530849.2:c.996_997delinsTG XP_011529151.2:p.Asp332=
XM_017029259.2:c.996_997delinsTG XP_016884748.1:p.Asp332=
XM_017029260.1:c.996_997delinsTG XP_016884749.1:p.Asp332=
XM_017029261.1:c.996_997delinsTG XP_016884750.1:p.Asp332=
XM_017029262.2:c.996_997delinsTG XP_016884751.1:p.Asp332=
XM_017029263.2:c.-729_-728delinsTG XP_016884752.1:n.-729_-728delinsTG
NM_000495.5:c.981_982delinsTG NP_000486.1:p.Asp327=
NM_033380.3:c.981_982delinsTG MANE Select NP_203699.1:p.Asp327=