Canonical Allele Identifier: CA334050947
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs35995868

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108623135_108623136insG , CM000685.2:g.108623135_108623136insG GRCh38
NC_000023.10:g.107866365_107866366insG , CM000685.1:g.107866365_107866366insG GRCh37
NC_000023.9:g.107753021_107753022insG NCBI36
NG_011977.1:g.188212_188213insG
NG_011977.2:g.188212_188213insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2917+310_2917+311insG MANE Select ENSP00000331902.7:n.2917+310_2917+311insG
ENST00000361603.7:c.2917+310_2917+311insG ENSP00000354505.2:n.2917+310_2917+311insG
ENST00000328300.10:c.2917+310_2917+311insG ENSP00000331902.6:n.2917+310_2917+311insG
ENST00000361603.6:c.2917+310_2917+311insG ENSP00000354505.2:n.2917+310_2917+311insG
ENST00000483338.1:n.2373+310_2373+311insG
ENST00000505728.1:c.150+310_150+311insG
NM_000495.4:c.2917+310_2917+311insG NP_000486.1:n.2917+310_2917+311insG
NM_033380.2:c.2917+310_2917+311insG NP_203699.1:n.2917+310_2917+311insG
XM_005262070.2:c.2917+310_2917+311insG XP_005262127.1:n.2917+310_2917+311insG
XM_005262072.3:c.2917+310_2917+311insG XP_005262129.1:n.2917+310_2917+311insG
XM_006724616.2:c.2917+310_2917+311insG XP_006724679.1:n.2917+310_2917+311insG
XM_011530849.1:c.2593+310_2593+311insG XP_011529151.1:n.2593+310_2593+311insG
XM_011530850.1:c.2917+310_2917+311insG XP_011529152.1:n.2917+310_2917+311insG
XM_011530851.1:c.490+310_490+311insG XP_011529153.1:n.490+310_490+311insG
XM_011530849.2:c.2932+310_2932+311insG XP_011529151.2:n.2932+310_2932+311insG
XM_017029259.2:c.2932+310_2932+311insG XP_016884748.1:n.2932+310_2932+311insG
XM_017029260.1:c.2932+310_2932+311insG XP_016884749.1:n.2932+310_2932+311insG
XM_017029261.1:c.2932+310_2932+311insG XP_016884750.1:n.2932+310_2932+311insG
XM_017029262.2:c.2932+310_2932+311insG XP_016884751.1:n.2932+310_2932+311insG
XM_017029263.2:c.1252+310_1252+311insG XP_016884752.1:n.1252+310_1252+311insG
NM_000495.5:c.2917+310_2917+311insG NP_000486.1:n.2917+310_2917+311insG
NM_033380.3:c.2917+310_2917+311insG MANE Select NP_203699.1:n.2917+310_2917+311insG