Canonical Allele Identifier: CA2579676782
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108665587_108665590del , CM000685.2:g.108665587_108665590del GRCh38
NC_000023.10:g.107908817_107908820del , CM000685.1:g.107908817_107908820del GRCh37
NC_000023.9:g.107795473_107795476del NCBI36
NG_011977.1:g.230664_230667del
NG_011977.2:g.230664_230667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3454_3454+3del
ENST00000361603.7:c.3454_3454+3del
ENST00000328300.10:c.3454_3454+3del
ENST00000361603.6:c.3454_3454+3del
NM_000495.4:c.3454_3454+3del
NM_033380.2:c.3454_3454+3del
XM_005262070.2:c.3454_3454+3del
XM_006724616.2:c.3454_3454+3del
XM_011530849.1:c.3130_3130+3del
XM_011530850.1:c.3454_3454+3del
XM_011530851.1:c.1027_1027+3del
XM_011530849.2:c.3469_3469+3del
XM_017029259.2:c.3469_3469+3del
XM_017029260.1:c.3469_3469+3del
XM_017029261.1:c.3469_3469+3del
XM_017029262.2:c.3469_3469+3del
XM_017029263.2:c.1789_1789+3del
NM_000495.5:c.3454_3454+3del
NM_033380.3:c.3454_3454+3del