Canonical Allele Identifier: CA2822894473
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108439964_108439968dup , CM000685.2:g.108439964_108439968dup GRCh38
NC_000023.10:g.107683194_107683198dup , CM000685.1:g.107683194_107683198dup GRCh37
NC_000023.9:g.107569850_107569854dup NCBI36
NG_011977.1:g.5041_5045dup
NG_012059.2:g.4512_4516dup
NG_011977.2:g.5041_5045dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.-162_-158dup MANE Select ENSP00000331902.7:n.-162_-158dup
ENST00000361603.7:c.-162_-158dup ENSP00000354505.2:n.-162_-158dup
ENST00000642185.1:c.-162_-158dup ENSP00000495101.1:n.-162_-158dup
ENST00000328300.10:c.-162_-158dup ENSP00000331902.6:n.-162_-158dup
ENST00000361603.6:c.-162_-158dup ENSP00000354505.2:n.-162_-158dup
ENST00000470339.1:n.23_27dup
ENST00000477429.1:n.121_125dup
NM_000495.4:c.-162_-158dup NP_000486.1:n.-162_-158dup
NM_033380.2:c.-162_-158dup NP_203699.1:n.-162_-158dup
XM_005262070.2:c.-162_-158dup XP_005262127.1:n.-162_-158dup
XM_005262072.3:c.-162_-158dup XP_005262129.1:n.-162_-158dup
XM_006724616.2:c.-120-42_-120-38dup XP_006724679.1:n.-120-42_-120-38dup
XM_011530850.1:c.-162_-158dup XP_011529152.1:n.-162_-158dup
NM_000495.5:c.-162_-158dup NP_000486.1:n.-162_-158dup
NM_033380.3:c.-162_-158dup MANE Select NP_203699.1:n.-162_-158dup