Canonical Allele Identifier: CA2450716772

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680513_108680518delinsATCAAC , CM000685.2:g.108680513_108680518delinsATCAAC	GRCh38
NC_000023.10:g.107923743_107923748delinsATCAAC , CM000685.1:g.107923743_107923748delinsATCAAC	GRCh37
NC_000023.9:g.107810399_107810404delinsATCAAC	NCBI36
NG_011977.1:g.245590_245595delinsATCAAC
NG_011977.2:g.245590_245595delinsATCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3943-166_3943-161delinsATCAAC MANE Select	ENSP00000331902.7:n.3943-166_3943-161delinsATCAAC
ENST00000361603.7:c.3925-166_3925-161delinsATCAAC	ENSP00000354505.2:n.3925-166_3925-161delinsATCAAC
ENST00000510690.2:n.437-166_437-161delinsATCAAC
ENST00000328300.10:c.3943-166_3943-161delinsATCAAC	ENSP00000331902.6:n.3943-166_3943-161delinsATCAAC
ENST00000361603.6:c.3925-166_3925-161delinsATCAAC	ENSP00000354505.2:n.3925-166_3925-161delinsATCAAC
ENST00000489230.1:n.346-166_346-161delinsATCAAC
NM_000495.4:c.3925-166_3925-161delinsATCAAC	NP_000486.1:n.3925-166_3925-161delinsATCAAC
NM_033380.2:c.3943-166_3943-161delinsATCAAC	NP_203699.1:n.3943-166_3943-161delinsATCAAC
XM_005262070.2:c.3934-166_3934-161delinsATCAAC	XP_005262127.1:n.3934-166_3934-161delinsATCAAC
XM_006724616.2:c.3943-166_3943-161delinsATCAAC	XP_006724679.1:n.3943-166_3943-161delinsATCAAC
XM_011530849.1:c.3619-166_3619-161delinsATCAAC	XP_011529151.1:n.3619-166_3619-161delinsATCAAC
XM_011530851.1:c.1516-166_1516-161delinsATCAAC	XP_011529153.1:n.1516-166_1516-161delinsATCAAC
XM_011530849.2:c.3958-166_3958-161delinsATCAAC	XP_011529151.2:n.3958-166_3958-161delinsATCAAC
XM_017029259.2:c.3949-166_3949-161delinsATCAAC	XP_016884748.1:n.3949-166_3949-161delinsATCAAC
XM_017029260.1:c.3940-166_3940-161delinsATCAAC	XP_016884749.1:n.3940-166_3940-161delinsATCAAC
XM_017029261.1:c.*249_*254delinsATCAAC	XP_016884750.1:n.*249_*254delinsATCAAC
XM_017029263.2:c.2278-166_2278-161delinsATCAAC	XP_016884752.1:n.2278-166_2278-161delinsATCAAC
NM_000495.5:c.3925-166_3925-161delinsATCAAC	NP_000486.1:n.3925-166_3925-161delinsATCAAC
NM_033380.3:c.3943-166_3943-161delinsATCAAC MANE Select	NP_203699.1:n.3943-166_3943-161delinsATCAAC