Canonical Allele Identifier: CA2450716773

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068404726

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680518_108680522del , CM000685.2:g.108680518_108680522del	GRCh38
NC_000023.10:g.107923748_107923752del , CM000685.1:g.107923748_107923752del	GRCh37
NC_000023.9:g.107810404_107810408del	NCBI36
NG_011977.1:g.245595_245599del
NG_011977.2:g.245595_245599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3943-161_3943-157del MANE Select	ENSP00000331902.7:n.3943-161_3943-157del
ENST00000361603.7:c.3925-161_3925-157del	ENSP00000354505.2:n.3925-161_3925-157del
ENST00000510690.2:n.437-161_437-157del
ENST00000328300.10:c.3943-161_3943-157del	ENSP00000331902.6:n.3943-161_3943-157del
ENST00000361603.6:c.3925-161_3925-157del	ENSP00000354505.2:n.3925-161_3925-157del
ENST00000489230.1:n.346-161_346-157del
NM_000495.4:c.3925-161_3925-157del	NP_000486.1:n.3925-161_3925-157del
NM_033380.2:c.3943-161_3943-157del	NP_203699.1:n.3943-161_3943-157del
XM_005262070.2:c.3934-161_3934-157del	XP_005262127.1:n.3934-161_3934-157del
XM_006724616.2:c.3943-161_3943-157del	XP_006724679.1:n.3943-161_3943-157del
XM_011530849.1:c.3619-161_3619-157del	XP_011529151.1:n.3619-161_3619-157del
XM_011530851.1:c.1516-161_1516-157del	XP_011529153.1:n.1516-161_1516-157del
XM_011530849.2:c.3958-161_3958-157del	XP_011529151.2:n.3958-161_3958-157del
XM_017029259.2:c.3949-161_3949-157del	XP_016884748.1:n.3949-161_3949-157del
XM_017029260.1:c.3940-161_3940-157del	XP_016884749.1:n.3940-161_3940-157del
XM_017029261.1:c.*254_*258del	XP_016884750.1:n.*254_*258del
XM_017029263.2:c.2278-161_2278-157del	XP_016884752.1:n.2278-161_2278-157del
NM_000495.5:c.3925-161_3925-157del	NP_000486.1:n.3925-161_3925-157del
NM_033380.3:c.3943-161_3943-157del MANE Select	NP_203699.1:n.3943-161_3943-157del