Canonical Allele Identifier: CA2695235251

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695330_108695343dup , CM000685.2:g.108695330_108695343dup	GRCh38
NC_000023.10:g.107938560_107938573dup , CM000685.1:g.107938560_107938573dup	GRCh37
NC_000023.9:g.107825216_107825229dup	NCBI36
NG_011977.1:g.260407_260420dup
NG_011977.2:g.260407_260420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4885_4898dup MANE Select	ENSP00000331902.7:p.Pro1634SerfsTer30
ENST00000361603.7:c.4867_4880dup	ENSP00000354505.2:p.Pro1628SerfsTer30
ENST00000510690.2:n.1379_1392dup
ENST00000644079.1:n.1716_1729dup
ENST00000328300.10:c.4885_4898dup	ENSP00000331902.6:p.Pro1634SerfsTer30
ENST00000361603.6:c.4867_4880dup	ENSP00000354505.2:p.Pro1628SerfsTer30
ENST00000504541.1:c.219+409_219+422dup	ENSP00000424845.1:n.219+409_219+422dup
ENST00000515658.1:c.325-967_325-954dup
NM_000495.4:c.4867_4880dup	NP_000486.1:p.Pro1628SerfsTer30
NM_033380.2:c.4885_4898dup	NP_203699.1:p.Pro1634SerfsTer30
XM_005262070.2:c.4876_4889dup	XP_005262127.1:p.Pro1631SerfsTer30
XM_006724616.2:c.4885_4898dup	XP_006724679.1:p.Pro1634SerfsTer30
XM_011530849.1:c.4561_4574dup	XP_011529151.1:p.Pro1526SerfsTer30
XM_011530851.1:c.2458_2471dup	XP_011529153.1:p.Pro825SerfsTer30
XM_011530849.2:c.4900_4913dup	XP_011529151.2:p.Pro1639SerfsTer30
XM_017029259.2:c.4891_4904dup	XP_016884748.1:p.Pro1636SerfsTer30
XM_017029260.1:c.4882_4895dup	XP_016884749.1:p.Pro1633SerfsTer30
XM_017029263.2:c.3220_3233dup	XP_016884752.1:p.Pro1079SerfsTer30
NM_000495.5:c.4867_4880dup	NP_000486.1:p.Pro1628SerfsTer30
NM_033380.3:c.4885_4898dup MANE Select	NP_203699.1:p.Pro1634SerfsTer30