Canonical Allele Identifier: CA2450716971
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681093_108681097delinsCTTTA , CM000685.2:g.108681093_108681097delinsCTTTA GRCh38
NC_000023.10:g.107924323_107924327delinsCTTTA , CM000685.1:g.107924323_107924327delinsCTTTA GRCh37
NC_000023.9:g.107810979_107810983delinsCTTTA NCBI36
NG_011977.1:g.246170_246174delinsCTTTA
NG_011977.2:g.246170_246174delinsCTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4087+137_4087+141delinsCTTTA MANE Select ENSP00000331902.7:n.4087+137_4087+141delinsCTTTA
ENST00000361603.7:c.4069+137_4069+141delinsCTTTA ENSP00000354505.2:n.4069+137_4069+141delinsCTTTA
ENST00000510690.2:n.581+137_581+141delinsCTTTA
ENST00000328300.10:c.4087+137_4087+141delinsCTTTA ENSP00000331902.6:n.4087+137_4087+141delinsCTTTA
ENST00000361603.6:c.4069+137_4069+141delinsCTTTA ENSP00000354505.2:n.4069+137_4069+141delinsCTTTA
ENST00000489230.1:n.490+137_490+141delinsCTTTA
NM_000495.4:c.4069+137_4069+141delinsCTTTA NP_000486.1:n.4069+137_4069+141delinsCTTTA
NM_033380.2:c.4087+137_4087+141delinsCTTTA NP_203699.1:n.4087+137_4087+141delinsCTTTA
XM_005262070.2:c.4078+137_4078+141delinsCTTTA XP_005262127.1:n.4078+137_4078+141delinsCTTTA
XM_006724616.2:c.4087+137_4087+141delinsCTTTA XP_006724679.1:n.4087+137_4087+141delinsCTTTA
XM_011530849.1:c.3763+137_3763+141delinsCTTTA XP_011529151.1:n.3763+137_3763+141delinsCTTTA
XM_011530851.1:c.1660+137_1660+141delinsCTTTA XP_011529153.1:n.1660+137_1660+141delinsCTTTA
XM_011530849.2:c.4102+137_4102+141delinsCTTTA XP_011529151.2:n.4102+137_4102+141delinsCTTTA
XM_017029259.2:c.4093+137_4093+141delinsCTTTA XP_016884748.1:n.4093+137_4093+141delinsCTTTA
XM_017029260.1:c.4084+137_4084+141delinsCTTTA XP_016884749.1:n.4084+137_4084+141delinsCTTTA
XM_017029263.2:c.2422+137_2422+141delinsCTTTA XP_016884752.1:n.2422+137_2422+141delinsCTTTA
NM_000495.5:c.4069+137_4069+141delinsCTTTA NP_000486.1:n.4069+137_4069+141delinsCTTTA
NM_033380.3:c.4087+137_4087+141delinsCTTTA MANE Select NP_203699.1:n.4087+137_4087+141delinsCTTTA