Canonical Allele Identifier: CA2697544724

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2683905
• ClinVar RCV Id: RCV003482495

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677519_108677562del , CM000685.2:g.108677519_108677562del	GRCh38
NC_000023.10:g.107920749_107920792del , CM000685.1:g.107920749_107920792del	GRCh37
NC_000023.9:g.107807405_107807448del	NCBI36
NG_011977.1:g.242596_242639del
NG_011977.2:g.242596_242639del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3828_3871del MANE Select	ENSP00000331902.7:p.Pro1277LysfsTer25
ENST00000361603.7:c.3810_3853del	ENSP00000354505.2:p.Pro1271LysfsTer25
ENST00000510690.2:n.322_365del
ENST00000328300.10:c.3828_3871del	ENSP00000331902.6:p.Pro1277LysfsTer25
ENST00000361603.6:c.3810_3853del	ENSP00000354505.2:p.Pro1271LysfsTer25
ENST00000489230.1:n.231_274del
ENST00000510690.1:n.322_365del
NM_000495.4:c.3810_3853del	NP_000486.1:p.Pro1271LysfsTer25
NM_033380.2:c.3828_3871del	NP_203699.1:p.Pro1277LysfsTer25
XM_005262070.2:c.3819_3862del	XP_005262127.1:p.Pro1274LysfsTer25
XM_006724616.2:c.3828_3871del	XP_006724679.1:p.Pro1277LysfsTer25
XM_011530849.1:c.3504_3547del	XP_011529151.1:p.Pro1169LysfsTer25
XM_011530851.1:c.1401_1444del	XP_011529153.1:p.Pro468LysfsTer25
XM_011530849.2:c.3843_3886del	XP_011529151.2:p.Pro1282LysfsTer25
XM_017029259.2:c.3834_3877del	XP_016884748.1:p.Pro1279LysfsTer25
XM_017029260.1:c.3825_3868del	XP_016884749.1:p.Pro1276LysfsTer25
XM_017029261.1:c.3843_3886del	XP_016884750.1:p.Pro1282LysfsTer26
XM_017029263.2:c.2163_2206del	XP_016884752.1:p.Pro722LysfsTer25
NM_000495.5:c.3810_3853del	NP_000486.1:p.Pro1271LysfsTer25
NM_033380.3:c.3828_3871del MANE Select	NP_203699.1:p.Pro1277LysfsTer25