Canonical Allele Identifier: CA1139667751

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 974470
• ClinVar RCV Id: RCV001281235
• dbSNP Id: rs2068717187

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695370_108695431del , CM000685.2:g.108695370_108695431del	GRCh38
NC_000023.10:g.107938600_107938661del , CM000685.1:g.107938600_107938661del	GRCh37
NC_000023.9:g.107825256_107825317del	NCBI36
NG_011977.1:g.260447_260508del
NG_011977.2:g.260447_260508del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4925_4986del MANE Select	ENSP00000331902.7:p.Gly1642AspfsTer4
ENST00000361603.7:c.4907_4968del	ENSP00000354505.2:p.Gly1636AspfsTer4
ENST00000510690.2:n.1419_1480del
ENST00000644079.1:n.1756_1817del
ENST00000328300.10:c.4925_4986del	ENSP00000331902.6:p.Gly1642AspfsTer4
ENST00000361603.6:c.4907_4968del	ENSP00000354505.2:p.Gly1636AspfsTer4
ENST00000504541.1:c.219+449_219+510del	ENSP00000424845.1:n.219+449_219+510del
ENST00000515658.1:c.325-927_325-866del
NM_000495.4:c.4907_4968del	NP_000486.1:p.Gly1636AspfsTer4
NM_033380.2:c.4925_4986del	NP_203699.1:p.Gly1642AspfsTer4
XM_005262070.2:c.4916_4977del	XP_005262127.1:p.Gly1639AspfsTer4
XM_006724616.2:c.4925_4986del	XP_006724679.1:p.Gly1642AspfsTer4
XM_011530849.1:c.4601_4662del	XP_011529151.1:p.Gly1534AspfsTer4
XM_011530851.1:c.2498_2559del	XP_011529153.1:p.Gly833AspfsTer4
XM_011530849.2:c.4940_5001del	XP_011529151.2:p.Gly1647AspfsTer4
XM_017029259.2:c.4931_4992del	XP_016884748.1:p.Gly1644AspfsTer4
XM_017029260.1:c.4922_4983del	XP_016884749.1:p.Gly1641AspfsTer4
XM_017029263.2:c.3260_3321del	XP_016884752.1:p.Gly1087AspfsTer4
NM_000495.5:c.4907_4968del	NP_000486.1:p.Gly1636AspfsTer4
NM_033380.3:c.4925_4986del MANE Select	NP_203699.1:p.Gly1642AspfsTer4