Canonical Allele Identifier: CA2599755198

Gene: COL4A5

Linked Data

• gnomAD v3: X-108696491-A-AAT
• gnomAD v4: X-108696491-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696491_108696492insAT , CM000685.2:g.108696491_108696492insAT	GRCh38
NC_000023.10:g.107939721_107939722insAT , CM000685.1:g.107939721_107939722insAT	GRCh37
NC_000023.9:g.107826377_107826378insAT	NCBI36
NG_011977.1:g.261568_261569insAT
NG_011977.2:g.261568_261569insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*113_*114insAT MANE Select	ENSP00000331902.7:n.*113_*114insAT
ENST00000361603.7:c.*113_*114insAT	ENSP00000354505.2:n.*113_*114insAT
ENST00000644079.1:n.2877_2878insAT
ENST00000328300.10:c.*113_*114insAT	ENSP00000331902.6:n.*113_*114insAT
ENST00000361603.6:c.*113_*114insAT	ENSP00000354505.2:n.*113_*114insAT
ENST00000504541.1:c.414_415insAT	ENSP00000424845.1:n.414_415insAT
ENST00000515658.1:c.519_520insAT
NM_000495.4:c.*113_*114insAT	NP_000486.1:n.*113_*114insAT
NM_033380.2:c.*113_*114insAT	NP_203699.1:n.*113_*114insAT
XM_005262070.2:c.*113_*114insAT	XP_005262127.1:n.*113_*114insAT
XM_006724616.2:c.*113_*114insAT	XP_006724679.1:n.*113_*114insAT
XM_011530849.1:c.*113_*114insAT	XP_011529151.1:n.*113_*114insAT
XM_011530851.1:c.*113_*114insAT	XP_011529153.1:n.*113_*114insAT
XM_011530849.2:c.*113_*114insAT	XP_011529151.2:n.*113_*114insAT
XM_017029259.2:c.*113_*114insAT	XP_016884748.1:n.*113_*114insAT
XM_017029260.1:c.*113_*114insAT	XP_016884749.1:n.*113_*114insAT
XM_017029263.2:c.*113_*114insAT	XP_016884752.1:n.*113_*114insAT
NM_000495.5:c.*113_*114insAT	NP_000486.1:n.*113_*114insAT
NM_033380.3:c.*113_*114insAT MANE Select	NP_203699.1:n.*113_*114insAT