Canonical Allele Identifier: CA2573051874

Gene: COL4A4

Linked Data

• ClinVar Variation Id: 1324121
• ClinVar RCV Id: RCV001780826
• dbSNP Id: rs2149722809

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227008279_227008280del , CM000664.2:g.227008279_227008280del	GRCh38
NC_000002.11:g.227872995_227872996del , CM000664.1:g.227872995_227872996del	GRCh37
NC_000002.10:g.227581239_227581240del	NCBI36
NG_011592.1:g.161281_161282del , LRG_231:g.161281_161282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682098.1:c.190-40_190-39del	ENSP00000508331.1:n.190-40_190-39del
ENST00000396625.5:c.4548_4549del MANE Select	ENSP00000379866.3:p.Phe1517Ter
ENST00000396625.3:c.4548_4549del	ENSP00000379866.3:p.Phe1517Ter
NM_000092.4:c.4548_4549del , LRG_231t1:c.4548_4549del	NP_000083.3:p.Phe1517Ter
XM_005246281.2:c.4548_4549del	XP_005246338.1:p.Phe1517Ter
XM_005246282.2:c.3993_3994del	XP_005246339.1:p.Phe1332Ter
XM_006712246.2:c.4359_4360del	XP_006712309.1:p.Phe1454Ter
XM_006712249.2:c.4548_4549del	XP_006712312.1:p.Phe1517Ter
XM_006712252.2:c.4216+13769_4216+13770del	XP_006712315.1:n.4216+13769_4216+13770del
XM_011510557.1:c.4467_4468del	XP_011508859.1:p.Phe1490Ter
XM_011510558.1:c.4440_4441del	XP_011508860.1:p.Phe1481Ter
XM_011510559.1:c.4548_4549del	XP_011508861.1:p.Phe1517Ter
XM_011510560.1:c.4548_4549del	XP_011508862.1:p.Phe1517Ter
XM_011510561.1:c.4548_4549del	XP_011508863.1:p.Phe1517Ter
XM_011510562.1:c.4548_4549del	XP_011508864.1:p.Phe1517Ter
XM_011510563.1:c.4334-40_4334-39del	XP_011508865.1:n.4334-40_4334-39del
XM_011510564.1:c.4217-40_4217-39del	XP_011508866.1:n.4217-40_4217-39del
XM_011510565.1:c.4216+13769_4216+13770del	XP_011508867.1:n.4216+13769_4216+13770del
XM_011510566.1:c.4216+13769_4216+13770del	XP_011508868.1:n.4216+13769_4216+13770del
XM_011510567.1:c.4216+13769_4216+13770del	XP_011508869.1:n.4216+13769_4216+13770del
XM_011510569.1:c.4216+13769_4216+13770del	XP_011508871.1:n.4216+13769_4216+13770del
XM_011510570.1:c.4216+13769_4216+13770del	XP_011508872.1:n.4216+13769_4216+13770del
XM_011510571.1:c.4216+13769_4216+13770del	XP_011508873.1:n.4216+13769_4216+13770del
XM_011510572.1:c.2874_2875del	XP_011508874.1:p.Phe959Ter
XR_922837.1:n.4858_4859del
XR_922838.1:n.4858_4859del
XR_922839.1:n.4526+13769_4526+13770del
XR_922840.1:n.4526+13769_4526+13770del
XM_005246281.3:c.4548_4549del	XP_005246338.1:p.Phe1517Ter
XM_005246282.3:c.3993_3994del	XP_005246339.1:p.Phe1332Ter
XM_006712246.3:c.4359_4360del	XP_006712309.1:p.Phe1454Ter
XM_011510557.2:c.4467_4468del	XP_011508859.1:p.Phe1490Ter
XM_011510558.2:c.4440_4441del	XP_011508860.1:p.Phe1481Ter
XM_011510559.2:c.4548_4549del	XP_011508861.1:p.Phe1517Ter
XM_011510560.2:c.4548_4549del	XP_011508862.1:p.Phe1517Ter
XM_011510561.2:c.4548_4549del	XP_011508863.1:p.Phe1517Ter
XM_011510562.2:c.4548_4549del	XP_011508864.1:p.Phe1517Ter
XM_011510565.2:c.4216+13769_4216+13770del	XP_011508867.1:n.4216+13769_4216+13770del
XM_011510566.2:c.4216+13769_4216+13770del	XP_011508868.1:n.4216+13769_4216+13770del
XM_011510567.2:c.4216+13769_4216+13770del	XP_011508869.1:n.4216+13769_4216+13770del
XM_011510569.2:c.4216+13769_4216+13770del	XP_011508871.1:n.4216+13769_4216+13770del
XM_011510570.2:c.4216+13769_4216+13770del	XP_011508872.1:n.4216+13769_4216+13770del
XM_011510572.3:c.2874_2875del	XP_011508874.1:p.Phe959Ter
XM_017003296.1:c.4548_4549del	XP_016858785.1:p.Phe1517Ter
XM_017003297.1:c.4431_4432del	XP_016858786.1:p.Phe1478Ter
XM_017003298.1:c.4548_4549del	XP_016858787.1:p.Phe1517Ter
XM_017003300.1:c.4216+13769_4216+13770del	XP_016858789.1:n.4216+13769_4216+13770del
XR_001738602.1:n.4874_4875del
XR_001738603.1:n.4874_4875del
XR_001738604.1:n.4660-40_4660-39del
XR_001738606.1:n.4542+13769_4542+13770del
XR_001738607.1:n.4542+13769_4542+13770del
XR_922837.2:n.4874_4875del
NM_000092.5:c.4548_4549del MANE Select	NP_000083.3:p.Phe1517Ter