Canonical Allele Identifier: CA2694440359

Gene: COL4A5

Linked Data

• gnomAD v4: X-108624160-G-GTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624161_108624162insGTT , CM000685.2:g.108624161_108624162insGTT	GRCh38
NC_000023.10:g.107867391_107867392insGTT , CM000685.1:g.107867391_107867392insGTT	GRCh37
NC_000023.9:g.107754047_107754048insGTT	NCBI36
NG_011977.1:g.189238_189239insGTT
NG_011977.2:g.189238_189239insGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2918-75_2918-74insGTT MANE Select	ENSP00000331902.7:n.2918-75_2918-74insGTT...
ENST00000361603.7:c.2918-75_2918-74insGTT	ENSP00000354505.2:n.2918-75_2918-74insGTT...
ENST00000328300.10:c.2918-75_2918-74insGTT	ENSP00000331902.6:n.2918-75_2918-74insGTT...
ENST00000361603.6:c.2918-75_2918-74insGTT	ENSP00000354505.2:n.2918-75_2918-74insGTT...
ENST00000483338.1:n.2374-75_2374-74insGTT
ENST00000505728.1:c.151-75_151-74insGTT
NM_000495.4:c.2918-75_2918-74insGTT	NP_000486.1:n.2918-75_2918-74insGTT
NM_033380.2:c.2918-75_2918-74insGTT	NP_203699.1:n.2918-75_2918-74insGTT
XM_005262070.2:c.2918-75_2918-74insGTT	XP_005262127.1:n.2918-75_2918-74insGTT
XM_005262072.3:c.2918-75_2918-74insGTT	XP_005262129.1:n.2918-75_2918-74insGTT
XM_006724616.2:c.2918-75_2918-74insGTT	XP_006724679.1:n.2918-75_2918-74insGTT
XM_011530849.1:c.2594-75_2594-74insGTT	XP_011529151.1:n.2594-75_2594-74insGTT
XM_011530850.1:c.2918-75_2918-74insGTT	XP_011529152.1:n.2918-75_2918-74insGTT
XM_011530851.1:c.491-75_491-74insGTT	XP_011529153.1:n.491-75_491-74insGTT
XM_011530849.2:c.2933-75_2933-74insGTT	XP_011529151.2:n.2933-75_2933-74insGTT
XM_017029259.2:c.2933-75_2933-74insGTT	XP_016884748.1:n.2933-75_2933-74insGTT
XM_017029260.1:c.2933-75_2933-74insGTT	XP_016884749.1:n.2933-75_2933-74insGTT
XM_017029261.1:c.2933-75_2933-74insGTT	XP_016884750.1:n.2933-75_2933-74insGTT
XM_017029262.2:c.2933-75_2933-74insGTT	XP_016884751.1:n.2933-75_2933-74insGTT
XM_017029263.2:c.1253-75_1253-74insGTT	XP_016884752.1:n.1253-75_1253-74insGTT
NM_000495.5:c.2918-75_2918-74insGTT	NP_000486.1:n.2918-75_2918-74insGTT
NM_033380.3:c.2918-75_2918-74insGTT MANE Select	NP_203699.1:n.2918-75_2918-74insGTT