Canonical Allele Identifier: CA2694415686

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695613-T-TGATTATTAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695614_108695624dup , CM000685.2:g.108695614_108695624dup	GRCh38
NC_000023.10:g.107938844_107938854dup , CM000685.1:g.107938844_107938854dup	GRCh37
NC_000023.9:g.107825500_107825510dup	NCBI36
NG_011977.1:g.260691_260701dup
NG_011977.2:g.260691_260701dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4994+175_4994+185dup MANE Select	ENSP00000331902.7:n.4994+175_4994+185dup
ENST00000361603.7:c.4976+175_4976+185dup	ENSP00000354505.2:n.4976+175_4976+185dup
ENST00000510690.2:n.1488+175_1488+185dup
ENST00000644079.1:n.2000_2010dup
ENST00000328300.10:c.4994+175_4994+185dup	ENSP00000331902.6:n.4994+175_4994+185dup
ENST00000361603.6:c.4976+175_4976+185dup	ENSP00000354505.2:n.4976+175_4976+185dup
ENST00000504541.1:c.220-683_220-673dup	ENSP00000424845.1:n.220-683_220-673dup
ENST00000515658.1:c.325-683_325-673dup
NM_000495.4:c.4976+175_4976+185dup	NP_000486.1:n.4976+175_4976+185dup
NM_033380.2:c.4994+175_4994+185dup	NP_203699.1:n.4994+175_4994+185dup
XM_005262070.2:c.4985+175_4985+185dup	XP_005262127.1:n.4985+175_4985+185dup
XM_006724616.2:c.4994+175_4994+185dup	XP_006724679.1:n.4994+175_4994+185dup
XM_011530849.1:c.4670+175_4670+185dup	XP_011529151.1:n.4670+175_4670+185dup
XM_011530851.1:c.2567+175_2567+185dup	XP_011529153.1:n.2567+175_2567+185dup
XM_011530849.2:c.5009+175_5009+185dup	XP_011529151.2:n.5009+175_5009+185dup
XM_017029259.2:c.5000+175_5000+185dup	XP_016884748.1:n.5000+175_5000+185dup
XM_017029260.1:c.4991+175_4991+185dup	XP_016884749.1:n.4991+175_4991+185dup
XM_017029263.2:c.3329+175_3329+185dup	XP_016884752.1:n.3329+175_3329+185dup
NM_000495.5:c.4976+175_4976+185dup	NP_000486.1:n.4976+175_4976+185dup
NM_033380.3:c.4994+175_4994+185dup MANE Select	NP_203699.1:n.4994+175_4994+185dup