Canonical Allele Identifier: CA2450722211

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696703_108696708delinsTAAGAG , CM000685.2:g.108696703_108696708delinsTAAGAG	GRCh38
NC_000023.10:g.107939933_107939938delinsTAAGAG , CM000685.1:g.107939933_107939938delinsTAAGAG	GRCh37
NC_000023.9:g.107826589_107826594delinsTAAGAG	NCBI36
NG_011977.1:g.261780_261785delinsTAAGAG
NG_011977.2:g.261780_261785delinsTAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*325_*330delinsTAAGAG MANE Select	ENSP00000331902.7:n.*325_*330delinsTAAGAG
ENST00000361603.7:c.*325_*330delinsTAAGAG	ENSP00000354505.2:n.*325_*330delinsTAAGAG
ENST00000644079.1:n.3089_3094delinsTAAGAG
ENST00000328300.10:c.*325_*330delinsTAAGAG	ENSP00000331902.6:n.*325_*330delinsTAAGAG
ENST00000361603.6:c.*325_*330delinsTAAGAG	ENSP00000354505.2:n.*325_*330delinsTAAGAG
ENST00000504541.1:c.626_631delinsTAAGAG	ENSP00000424845.1:n.626_631delinsTAAGAG
ENST00000515658.1:c.731_736delinsTAAGAG
NM_000495.4:c.*325_*330delinsTAAGAG	NP_000486.1:n.*325_*330delinsTAAGAG
NM_033380.2:c.*325_*330delinsTAAGAG	NP_203699.1:n.*325_*330delinsTAAGAG
XM_005262070.2:c.*325_*330delinsTAAGAG	XP_005262127.1:n.*325_*330delinsTAAGAG
XM_006724616.2:c.*325_*330delinsTAAGAG	XP_006724679.1:n.*325_*330delinsTAAGAG
XM_011530849.1:c.*325_*330delinsTAAGAG	XP_011529151.1:n.*325_*330delinsTAAGAG
XM_011530851.1:c.*325_*330delinsTAAGAG	XP_011529153.1:n.*325_*330delinsTAAGAG
XM_011530849.2:c.*325_*330delinsTAAGAG	XP_011529151.2:n.*325_*330delinsTAAGAG
XM_017029259.2:c.*325_*330delinsTAAGAG	XP_016884748.1:n.*325_*330delinsTAAGAG
XM_017029260.1:c.*325_*330delinsTAAGAG	XP_016884749.1:n.*325_*330delinsTAAGAG
XM_017029263.2:c.*325_*330delinsTAAGAG	XP_016884752.1:n.*325_*330delinsTAAGAG
NM_000495.5:c.*325_*330delinsTAAGAG	NP_000486.1:n.*325_*330delinsTAAGAG
NM_033380.3:c.*325_*330delinsTAAGAG MANE Select	NP_203699.1:n.*325_*330delinsTAAGAG