Canonical Allele Identifier: CA2839483117
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108621940_108621941insAG , CM000685.2:g.108621940_108621941insAG GRCh38
NC_000023.10:g.107865170_107865171insAG , CM000685.1:g.107865170_107865171insAG GRCh37
NC_000023.9:g.107751826_107751827insAG NCBI36
NG_011977.1:g.187017_187018insAG
NG_011977.2:g.187017_187018insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.2767+48_2767+49insAG MANE Select ENSP00000331902.7:n.2767+48_2767+49insAG
ENST00000361603.7:c.2767+48_2767+49insAG ENSP00000354505.2:n.2767+48_2767+49insAG
ENST00000328300.10:c.2767+48_2767+49insAG ENSP00000331902.6:n.2767+48_2767+49insAG
ENST00000361603.6:c.2767+48_2767+49insAG ENSP00000354505.2:n.2767+48_2767+49insAG
ENST00000483338.1:n.2223+48_2223+49insAG
NM_000495.4:c.2767+48_2767+49insAG NP_000486.1:n.2767+48_2767+49insAG
NM_033380.2:c.2767+48_2767+49insAG NP_203699.1:n.2767+48_2767+49insAG
XM_005262070.2:c.2767+48_2767+49insAG XP_005262127.1:n.2767+48_2767+49insAG
XM_005262072.3:c.2767+48_2767+49insAG XP_005262129.1:n.2767+48_2767+49insAG
XM_006724616.2:c.2767+48_2767+49insAG XP_006724679.1:n.2767+48_2767+49insAG
XM_011530849.1:c.2443+48_2443+49insAG XP_011529151.1:n.2443+48_2443+49insAG
XM_011530850.1:c.2767+48_2767+49insAG XP_011529152.1:n.2767+48_2767+49insAG
XM_011530851.1:c.340+48_340+49insAG XP_011529153.1:n.340+48_340+49insAG
XM_011530849.2:c.2782+48_2782+49insAG XP_011529151.2:n.2782+48_2782+49insAG
XM_017029259.2:c.2782+48_2782+49insAG XP_016884748.1:n.2782+48_2782+49insAG
XM_017029260.1:c.2782+48_2782+49insAG XP_016884749.1:n.2782+48_2782+49insAG
XM_017029261.1:c.2782+48_2782+49insAG XP_016884750.1:n.2782+48_2782+49insAG
XM_017029262.2:c.2782+48_2782+49insAG XP_016884751.1:n.2782+48_2782+49insAG
XM_017029263.2:c.1102+48_1102+49insAG XP_016884752.1:n.1102+48_1102+49insAG
NM_000495.5:c.2767+48_2767+49insAG NP_000486.1:n.2767+48_2767+49insAG
NM_033380.3:c.2767+48_2767+49insAG MANE Select NP_203699.1:n.2767+48_2767+49insAG