Canonical Allele Identifier: CA891843689

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930815_107930816dup (hg19) ; chrX:g.108687585_108687586dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687585_108687586dup , CM000685.2:g.108687585_108687586dup	GRCh38
NC_000023.10:g.107930815_107930816dup , CM000685.1:g.107930815_107930816dup	GRCh37
NC_000023.9:g.107817471_107817472dup	NCBI36
NG_011977.1:g.252662_252663dup
NG_011977.2:g.252662_252663dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4419_4420dup MANE Select	ENSP00000331902.7:p.Ser1474ThrfsTer?
ENST00000361603.7:c.4401_4402dup	ENSP00000354505.2:p.Ser1468ThrfsTer?
ENST00000510690.2:n.913_914dup
ENST00000328300.10:c.4419_4420dup	ENSP00000331902.6:p.Ser1474ThrfsTer?
ENST00000361603.6:c.4401_4402dup	ENSP00000354505.2:p.Ser1468ThrfsTer?
ENST00000515658.1:c.215_216dup
NM_000495.4:c.4401_4402dup	NP_000486.1:p.Ser1468ThrfsTer?
NM_033380.2:c.4419_4420dup	NP_203699.1:p.Ser1474ThrfsTer?
XM_005262070.2:c.4410_4411dup	XP_005262127.1:p.Ser1471ThrfsTer?
XM_006724616.2:c.4419_4420dup	XP_006724679.1:p.Ser1474ThrfsTer?
XM_011530849.1:c.4095_4096dup	XP_011529151.1:p.Ser1366ThrfsTer?
XM_011530851.1:c.1992_1993dup	XP_011529153.1:p.Ser665ThrfsTer?
XM_011530849.2:c.4434_4435dup	XP_011529151.2:p.Ser1479ThrfsTer?
XM_017029259.2:c.4425_4426dup	XP_016884748.1:p.Ser1476ThrfsTer?
XM_017029260.1:c.4416_4417dup	XP_016884749.1:p.Ser1473ThrfsTer?
XM_017029263.2:c.2754_2755dup	XP_016884752.1:p.Ser919ThrfsTer?
NM_000495.5:c.4401_4402dup	NP_000486.1:p.Ser1468ThrfsTer?
NM_033380.3:c.4419_4420dup MANE Select	NP_203699.1:p.Ser1474ThrfsTer?