Canonical Allele Identifier: CA891843697

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938097dup (hg19) ; chrX:g.108694867dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694867dup , CM000685.2:g.108694867dup	GRCh38
NC_000023.10:g.107938097dup , CM000685.1:g.107938097dup	GRCh37
NC_000023.9:g.107824753dup	NCBI36
NG_011977.1:g.259944dup
NG_011977.2:g.259944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4767dup MANE Select	ENSP00000331902.7:p.Pro1590SerfsTer?
ENST00000361603.7:c.4749dup	ENSP00000354505.2:p.Pro1584SerfsTer?
ENST00000510690.2:n.1261dup
ENST00000644079.1:n.1253dup
ENST00000328300.10:c.4767dup	ENSP00000331902.6:p.Pro1590SerfsTer?
ENST00000361603.6:c.4749dup	ENSP00000354505.2:p.Pro1584SerfsTer?
ENST00000504541.1:c.165dup	ENSP00000424845.1:p.Pro56SerfsTer26
ENST00000515658.1:c.325-1430dup
NM_000495.4:c.4749dup	NP_000486.1:p.Pro1584SerfsTer?
NM_033380.2:c.4767dup	NP_203699.1:p.Pro1590SerfsTer?
XM_005262070.2:c.4758dup	XP_005262127.1:p.Pro1587SerfsTer?
XM_006724616.2:c.4767dup	XP_006724679.1:p.Pro1590SerfsTer?
XM_011530849.1:c.4443dup	XP_011529151.1:p.Pro1482SerfsTer?
XM_011530851.1:c.2340dup	XP_011529153.1:p.Pro781SerfsTer?
XM_011530849.2:c.4782dup	XP_011529151.2:p.Pro1595SerfsTer?
XM_017029259.2:c.4773dup	XP_016884748.1:p.Pro1592SerfsTer?
XM_017029260.1:c.4764dup	XP_016884749.1:p.Pro1589SerfsTer?
XM_017029263.2:c.3102dup	XP_016884752.1:p.Pro1035SerfsTer?
NM_000495.5:c.4749dup	NP_000486.1:p.Pro1584SerfsTer?
NM_033380.3:c.4767dup MANE Select	NP_203699.1:p.Pro1590SerfsTer?