Canonical Allele Identifier: CA2450721858

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695676_108695678delinsCAG , CM000685.2:g.108695676_108695678delinsCAG	GRCh38
NC_000023.10:g.107938906_107938908delinsCAG , CM000685.1:g.107938906_107938908delinsCAG	GRCh37
NC_000023.9:g.107825562_107825564delinsCAG	NCBI36
NG_011977.1:g.260753_260755delinsCAG
NG_011977.2:g.260753_260755delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4994+237_4994+239delinsCAG MANE Select	ENSP00000331902.7:n.4994+237_4994+239delinsCAG
ENST00000361603.7:c.4976+237_4976+239delinsCAG	ENSP00000354505.2:n.4976+237_4976+239delinsCAG
ENST00000510690.2:n.1488+237_1488+239delinsCAG
ENST00000644079.1:n.2062_2064delinsCAG
ENST00000328300.10:c.4994+237_4994+239delinsCAG	ENSP00000331902.6:n.4994+237_4994+239delinsCAG
ENST00000361603.6:c.4976+237_4976+239delinsCAG	ENSP00000354505.2:n.4976+237_4976+239delinsCAG
ENST00000504541.1:c.220-621_220-619delinsCAG	ENSP00000424845.1:n.220-621_220-619delinsCAG
ENST00000515658.1:c.325-621_325-619delinsCAG
NM_000495.4:c.4976+237_4976+239delinsCAG	NP_000486.1:n.4976+237_4976+239delinsCAG
NM_033380.2:c.4994+237_4994+239delinsCAG	NP_203699.1:n.4994+237_4994+239delinsCAG
XM_005262070.2:c.4985+237_4985+239delinsCAG	XP_005262127.1:n.4985+237_4985+239delinsCAG
XM_006724616.2:c.4994+237_4994+239delinsCAG	XP_006724679.1:n.4994+237_4994+239delinsCAG
XM_011530849.1:c.4670+237_4670+239delinsCAG	XP_011529151.1:n.4670+237_4670+239delinsCAG
XM_011530851.1:c.2567+237_2567+239delinsCAG	XP_011529153.1:n.2567+237_2567+239delinsCAG
XM_011530849.2:c.5009+237_5009+239delinsCAG	XP_011529151.2:n.5009+237_5009+239delinsCAG
XM_017029259.2:c.5000+237_5000+239delinsCAG	XP_016884748.1:n.5000+237_5000+239delinsCAG
XM_017029260.1:c.4991+237_4991+239delinsCAG	XP_016884749.1:n.4991+237_4991+239delinsCAG
XM_017029263.2:c.3329+237_3329+239delinsCAG	XP_016884752.1:n.3329+237_3329+239delinsCAG
NM_000495.5:c.4976+237_4976+239delinsCAG	NP_000486.1:n.4976+237_4976+239delinsCAG
NM_033380.3:c.4994+237_4994+239delinsCAG MANE Select	NP_203699.1:n.4994+237_4994+239delinsCAG