Canonical Allele Identifier: CA2697544691

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2722195
• ClinVar RCV Id: RCV003556802

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108626319_108626332del , CM000685.2:g.108626319_108626332del	GRCh38
NC_000023.10:g.107869549_107869562del , CM000685.1:g.107869549_107869562del	GRCh37
NC_000023.9:g.107756205_107756218del	NCBI36
NG_011977.1:g.191396_191409del
NG_011977.2:g.191396_191409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3216_3229del MANE Select	ENSP00000331902.7:p.Ser1072ArgfsTer8
ENST00000361603.7:c.3216_3229del	ENSP00000354505.2:p.Ser1072ArgfsTer8
ENST00000328300.10:c.3216_3229del	ENSP00000331902.6:p.Ser1072ArgfsTer8
ENST00000361603.6:c.3216_3229del	ENSP00000354505.2:p.Ser1072ArgfsTer8
ENST00000483338.1:n.2672_2685del
ENST00000505728.1:c.449_462del
NM_000495.4:c.3216_3229del	NP_000486.1:p.Ser1072ArgfsTer8
NM_033380.2:c.3216_3229del	NP_203699.1:p.Ser1072ArgfsTer8
XM_005262070.2:c.3216_3229del	XP_005262127.1:p.Ser1072ArgfsTer8
XM_005262072.3:c.3216_3229del	XP_005262129.1:p.Ser1072ArgfsTer?
XM_006724616.2:c.3216_3229del	XP_006724679.1:p.Ser1072ArgfsTer8
XM_011530849.1:c.2892_2905del	XP_011529151.1:p.Ser964ArgfsTer8
XM_011530850.1:c.3216_3229del	XP_011529152.1:p.Ser1072ArgfsTer8
XM_011530851.1:c.789_802del	XP_011529153.1:p.Ser263ArgfsTer8
XM_011530849.2:c.3231_3244del	XP_011529151.2:p.Ser1077ArgfsTer8
XM_017029259.2:c.3231_3244del	XP_016884748.1:p.Ser1077ArgfsTer8
XM_017029260.1:c.3231_3244del	XP_016884749.1:p.Ser1077ArgfsTer8
XM_017029261.1:c.3231_3244del	XP_016884750.1:p.Ser1077ArgfsTer8
XM_017029262.2:c.3231_3244del	XP_016884751.1:p.Ser1077ArgfsTer8
XM_017029263.2:c.1551_1564del	XP_016884752.1:p.Ser517ArgfsTer8
NM_000495.5:c.3216_3229del	NP_000486.1:p.Ser1072ArgfsTer8
NM_033380.3:c.3216_3229del MANE Select	NP_203699.1:p.Ser1072ArgfsTer8