Canonical Allele Identifier: CA2694414718

Gene: COL4A5

Linked Data

• gnomAD v4: X-108686115-T-TGCCAGGACA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686122_108686130dup , CM000685.2:g.108686122_108686130dup	GRCh38
NC_000023.10:g.107929352_107929360dup , CM000685.1:g.107929352_107929360dup	GRCh37
NC_000023.9:g.107816008_107816016dup	NCBI36
NG_011977.1:g.251199_251207dup
NG_011977.2:g.251199_251207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4308_4315+1dup
ENST00000361603.7:c.4290_4297+1dup
ENST00000510690.2:n.802_809+1dup
ENST00000328300.10:c.4308_4315+1dup
ENST00000361603.6:c.4290_4297+1dup
ENST00000489230.1:n.711_718+1dup
ENST00000515658.1:c.104_111+1dup
NM_000495.4:c.4290_4297+1dup
NM_033380.2:c.4308_4315+1dup
XM_005262070.2:c.4299_4306+1dup
XM_006724616.2:c.4308_4315+1dup
XM_011530849.1:c.3984_3991+1dup
XM_011530851.1:c.1881_1888+1dup
XM_011530849.2:c.4323_4330+1dup
XM_017029259.2:c.4314_4321+1dup
XM_017029260.1:c.4305_4312+1dup
XM_017029263.2:c.2643_2650+1dup
NM_000495.5:c.4290_4297+1dup
NM_033380.3:c.4308_4315+1dup