Canonical Allele Identifier: CA2450721911

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068724158
• gnomAD v4: X-108695820-C-CATTTAAGGGTTTGAATGAGCAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695821_108695844dup , CM000685.2:g.108695821_108695844dup	GRCh38
NC_000023.10:g.107939051_107939074dup , CM000685.1:g.107939051_107939074dup	GRCh37
NC_000023.9:g.107825707_107825730dup	NCBI36
NG_011977.1:g.260898_260921dup
NG_011977.2:g.260898_260921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4994+382_4994+405dup MANE Select	ENSP00000331902.7:n.4994+382_4994+405dup
ENST00000361603.7:c.4976+382_4976+405dup	ENSP00000354505.2:n.4976+382_4976+405dup
ENST00000510690.2:n.1488+382_1488+405dup
ENST00000644079.1:n.2207_2230dup
ENST00000328300.10:c.4994+382_4994+405dup	ENSP00000331902.6:n.4994+382_4994+405dup
ENST00000361603.6:c.4976+382_4976+405dup	ENSP00000354505.2:n.4976+382_4976+405dup
ENST00000504541.1:c.220-476_220-453dup	ENSP00000424845.1:n.220-476_220-453dup
ENST00000515658.1:c.325-476_325-453dup
NM_000495.4:c.4976+382_4976+405dup	NP_000486.1:n.4976+382_4976+405dup
NM_033380.2:c.4994+382_4994+405dup	NP_203699.1:n.4994+382_4994+405dup
XM_005262070.2:c.4985+382_4985+405dup	XP_005262127.1:n.4985+382_4985+405dup
XM_006724616.2:c.4994+382_4994+405dup	XP_006724679.1:n.4994+382_4994+405dup
XM_011530849.1:c.4670+382_4670+405dup	XP_011529151.1:n.4670+382_4670+405dup
XM_011530851.1:c.2567+382_2567+405dup	XP_011529153.1:n.2567+382_2567+405dup
XM_011530849.2:c.5009+382_5009+405dup	XP_011529151.2:n.5009+382_5009+405dup
XM_017029259.2:c.5000+382_5000+405dup	XP_016884748.1:n.5000+382_5000+405dup
XM_017029260.1:c.4991+382_4991+405dup	XP_016884749.1:n.4991+382_4991+405dup
XM_017029263.2:c.3329+382_3329+405dup	XP_016884752.1:n.3329+382_3329+405dup
NM_000495.5:c.4976+382_4976+405dup	NP_000486.1:n.4976+382_4976+405dup
NM_033380.3:c.4994+382_4994+405dup MANE Select	NP_203699.1:n.4994+382_4994+405dup