Canonical Allele Identifier: CA2739273713

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2921028
• ClinVar RCV Id: RCV003622414

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108666604_108666605delinsA , CM000685.2:g.108666604_108666605delinsA	GRCh38
NC_000023.10:g.107909834_107909835delinsA , CM000685.1:g.107909834_107909835delinsA	GRCh37
NC_000023.9:g.107796490_107796491delinsA	NCBI36
NG_011977.1:g.231681_231682delinsA
NG_011977.2:g.231681_231682delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3553+10_3553+11delinsA MANE Select	ENSP00000331902.7:n.3553+10_3553+11delinsA
ENST00000361603.7:c.3553+10_3553+11delinsA	ENSP00000354505.2:n.3553+10_3553+11delinsA
ENST00000328300.10:c.3553+10_3553+11delinsA	ENSP00000331902.6:n.3553+10_3553+11delinsA
ENST00000361603.6:c.3553+10_3553+11delinsA	ENSP00000354505.2:n.3553+10_3553+11delinsA
NM_000495.4:c.3553+10_3553+11delinsA	NP_000486.1:n.3553+10_3553+11delinsA
NM_033380.2:c.3553+10_3553+11delinsA	NP_203699.1:n.3553+10_3553+11delinsA
XM_005262070.2:c.3553+10_3553+11delinsA	XP_005262127.1:n.3553+10_3553+11delinsA
XM_006724616.2:c.3553+10_3553+11delinsA	XP_006724679.1:n.3553+10_3553+11delinsA
XM_011530849.1:c.3229+10_3229+11delinsA	XP_011529151.1:n.3229+10_3229+11delinsA
XM_011530850.1:c.3553+10_3553+11delinsA	XP_011529152.1:n.3553+10_3553+11delinsA
XM_011530851.1:c.1126+10_1126+11delinsA	XP_011529153.1:n.1126+10_1126+11delinsA
XM_011530849.2:c.3568+10_3568+11delinsA	XP_011529151.2:n.3568+10_3568+11delinsA
XM_017029259.2:c.3568+10_3568+11delinsA	XP_016884748.1:n.3568+10_3568+11delinsA
XM_017029260.1:c.3568+10_3568+11delinsA	XP_016884749.1:n.3568+10_3568+11delinsA
XM_017029261.1:c.3568+10_3568+11delinsA	XP_016884750.1:n.3568+10_3568+11delinsA
XM_017029262.2:c.3568+10_3568+11delinsA	XP_016884751.1:n.3568+10_3568+11delinsA
XM_017029263.2:c.1888+10_1888+11delinsA	XP_016884752.1:n.1888+10_1888+11delinsA
NM_000495.5:c.3553+10_3553+11delinsA	NP_000486.1:n.3553+10_3553+11delinsA
NM_033380.3:c.3553+10_3553+11delinsA MANE Select	NP_203699.1:n.3553+10_3553+11delinsA