Canonical Allele Identifier: CA2579676789
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108665599_108665604dup , CM000685.2:g.108665599_108665604dup GRCh38
NC_000023.10:g.107908829_107908834dup , CM000685.1:g.107908829_107908834dup GRCh37
NC_000023.9:g.107795485_107795490dup NCBI36
NG_011977.1:g.230676_230681dup
NG_011977.2:g.230676_230681dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3454+12_3454+17dup MANE Select ENSP00000331902.7:n.3454+12_3454+17dup
ENST00000361603.7:c.3454+12_3454+17dup ENSP00000354505.2:n.3454+12_3454+17dup
ENST00000328300.10:c.3454+12_3454+17dup ENSP00000331902.6:n.3454+12_3454+17dup
ENST00000361603.6:c.3454+12_3454+17dup ENSP00000354505.2:n.3454+12_3454+17dup
NM_000495.4:c.3454+12_3454+17dup NP_000486.1:n.3454+12_3454+17dup
NM_033380.2:c.3454+12_3454+17dup NP_203699.1:n.3454+12_3454+17dup
XM_005262070.2:c.3454+12_3454+17dup XP_005262127.1:n.3454+12_3454+17dup
XM_006724616.2:c.3454+12_3454+17dup XP_006724679.1:n.3454+12_3454+17dup
XM_011530849.1:c.3130+12_3130+17dup XP_011529151.1:n.3130+12_3130+17dup
XM_011530850.1:c.3454+12_3454+17dup XP_011529152.1:n.3454+12_3454+17dup
XM_011530851.1:c.1027+12_1027+17dup XP_011529153.1:n.1027+12_1027+17dup
XM_011530849.2:c.3469+12_3469+17dup XP_011529151.2:n.3469+12_3469+17dup
XM_017029259.2:c.3469+12_3469+17dup XP_016884748.1:n.3469+12_3469+17dup
XM_017029260.1:c.3469+12_3469+17dup XP_016884749.1:n.3469+12_3469+17dup
XM_017029261.1:c.3469+12_3469+17dup XP_016884750.1:n.3469+12_3469+17dup
XM_017029262.2:c.3469+12_3469+17dup XP_016884751.1:n.3469+12_3469+17dup
XM_017029263.2:c.1789+12_1789+17dup XP_016884752.1:n.1789+12_1789+17dup
NM_000495.5:c.3454+12_3454+17dup NP_000486.1:n.3454+12_3454+17dup
NM_033380.3:c.3454+12_3454+17dup MANE Select NP_203699.1:n.3454+12_3454+17dup