Canonical Allele Identifier: CA2695235250
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694914_108694923dup , CM000685.2:g.108694914_108694923dup GRCh38
NC_000023.10:g.107938144_107938153dup , CM000685.1:g.107938144_107938153dup GRCh37
NC_000023.9:g.107824800_107824809dup NCBI36
NG_011977.1:g.259991_260000dup
NG_011977.2:g.259991_260000dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4814_4821+2dup
ENST00000361603.7:c.4796_4803+2dup
ENST00000510690.2:n.1308_1315+2dup
ENST00000644079.1:n.1300_1309dup
ENST00000328300.10:c.4814_4821+2dup
ENST00000361603.6:c.4796_4803+2dup
ENST00000504541.1:c.212_219+2dup
ENST00000515658.1:c.325-1383_325-1374dup
NM_000495.4:c.4796_4803+2dup
NM_033380.2:c.4814_4821+2dup
XM_005262070.2:c.4805_4812+2dup
XM_006724616.2:c.4814_4821+2dup
XM_011530849.1:c.4490_4497+2dup
XM_011530851.1:c.2387_2394+2dup
XM_011530849.2:c.4829_4836+2dup
XM_017029259.2:c.4820_4827+2dup
XM_017029260.1:c.4811_4818+2dup
XM_017029263.2:c.3149_3156+2dup
NM_000495.5:c.4796_4803+2dup
NM_033380.3:c.4814_4821+2dup