Canonical Allele Identifier: CA2450715720
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108677403_108677404delinsCA , CM000685.2:g.108677403_108677404delinsCA GRCh38
NC_000023.10:g.107920633_107920634delinsCA , CM000685.1:g.107920633_107920634delinsCA GRCh37
NC_000023.9:g.107807289_107807290delinsCA NCBI36
NG_011977.1:g.242480_242481delinsCA
NG_011977.2:g.242480_242481delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3809-97_3809-96delinsCA MANE Select ENSP00000331902.7:n.3809-97_3809-96delinsCA
ENST00000361603.7:c.3791-97_3791-96delinsCA ENSP00000354505.2:n.3791-97_3791-96delinsCA
ENST00000510690.2:n.303-97_303-96delinsCA
ENST00000328300.10:c.3809-97_3809-96delinsCA ENSP00000331902.6:n.3809-97_3809-96delinsCA
ENST00000361603.6:c.3791-97_3791-96delinsCA ENSP00000354505.2:n.3791-97_3791-96delinsCA
ENST00000489230.1:n.212-97_212-96delinsCA
ENST00000510690.1:n.303-97_303-96delinsCA
NM_000495.4:c.3791-97_3791-96delinsCA NP_000486.1:n.3791-97_3791-96delinsCA
NM_033380.2:c.3809-97_3809-96delinsCA NP_203699.1:n.3809-97_3809-96delinsCA
XM_005262070.2:c.3800-97_3800-96delinsCA XP_005262127.1:n.3800-97_3800-96delinsCA
XM_006724616.2:c.3809-97_3809-96delinsCA XP_006724679.1:n.3809-97_3809-96delinsCA
XM_011530849.1:c.3485-97_3485-96delinsCA XP_011529151.1:n.3485-97_3485-96delinsCA
XM_011530851.1:c.1382-97_1382-96delinsCA XP_011529153.1:n.1382-97_1382-96delinsCA
XM_011530849.2:c.3824-97_3824-96delinsCA XP_011529151.2:n.3824-97_3824-96delinsCA
XM_017029259.2:c.3815-97_3815-96delinsCA XP_016884748.1:n.3815-97_3815-96delinsCA
XM_017029260.1:c.3806-97_3806-96delinsCA XP_016884749.1:n.3806-97_3806-96delinsCA
XM_017029261.1:c.3824-97_3824-96delinsCA XP_016884750.1:n.3824-97_3824-96delinsCA
XM_017029263.2:c.2144-97_2144-96delinsCA XP_016884752.1:n.2144-97_2144-96delinsCA
NM_000495.5:c.3791-97_3791-96delinsCA NP_000486.1:n.3791-97_3791-96delinsCA
NM_033380.3:c.3809-97_3809-96delinsCA MANE Select NP_203699.1:n.3809-97_3809-96delinsCA