Canonical Allele Identifier: CA658799837

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 523548
• ClinVar RCV Id: RCV000626982
• dbSNP Id: rs1556463583
• MyVariant Identifiers: chrX:g.107938581dup (hg19) ; chrX:g.108695351dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695351dup , CM000685.2:g.108695351dup	GRCh38
NC_000023.10:g.107938581dup , CM000685.1:g.107938581dup	GRCh37
NC_000023.9:g.107825237dup	NCBI36
NG_011977.1:g.260428dup
NG_011977.2:g.260428dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4906dup MANE Select	ENSP00000331902.7:p.Ile1636AsnfsTer10
ENST00000361603.7:c.4888dup	ENSP00000354505.2:p.Ile1630AsnfsTer10
ENST00000510690.2:n.1400dup
ENST00000644079.1:n.1737dup
ENST00000328300.10:c.4906dup	ENSP00000331902.6:p.Ile1636AsnfsTer10
ENST00000361603.6:c.4888dup	ENSP00000354505.2:p.Ile1630AsnfsTer10
ENST00000504541.1:c.219+430dup	ENSP00000424845.1:n.219+430dup
ENST00000515658.1:c.325-946dup
NM_000495.4:c.4888dup	NP_000486.1:p.Ile1630AsnfsTer10
NM_033380.2:c.4906dup	NP_203699.1:p.Ile1636AsnfsTer10
XM_005262070.2:c.4897dup	XP_005262127.1:p.Ile1633AsnfsTer10
XM_006724616.2:c.4906dup	XP_006724679.1:p.Ile1636AsnfsTer10
XM_011530849.1:c.4582dup	XP_011529151.1:p.Ile1528AsnfsTer10
XM_011530851.1:c.2479dup	XP_011529153.1:p.Ile827AsnfsTer10
XM_011530849.2:c.4921dup	XP_011529151.2:p.Ile1641AsnfsTer10
XM_017029259.2:c.4912dup	XP_016884748.1:p.Ile1638AsnfsTer10
XM_017029260.1:c.4903dup	XP_016884749.1:p.Ile1635AsnfsTer10
XM_017029263.2:c.3241dup	XP_016884752.1:p.Ile1081AsnfsTer10
NM_000495.5:c.4888dup	NP_000486.1:p.Ile1630AsnfsTer10
NM_033380.3:c.4906dup MANE Select	NP_203699.1:p.Ile1636AsnfsTer10