Canonical Allele Identifier: CA2586965581

Gene: COL4A4

Linked Data

• gnomAD v4: 2-227007380-CTTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227007384_227007388del , CM000664.2:g.227007384_227007388del	GRCh38
NC_000002.11:g.227872100_227872104del , CM000664.1:g.227872100_227872104del	GRCh37
NC_000002.10:g.227580344_227580348del	NCBI36
NG_011592.1:g.162175_162179del , LRG_231:g.162175_162179del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682098.1:c.615_619del	ENSP00000508331.1:p.Glu206ProfsTer17
ENST00000396625.5:c.5013_5017del MANE Select	ENSP00000379866.3:p.Glu1672ProfsTer17
ENST00000396625.3:c.5013_5017del	ENSP00000379866.3:p.Glu1672ProfsTer17
NM_000092.4:c.5013_5017del , LRG_231t1:c.5013_5017del	NP_000083.3:p.Glu1672ProfsTer17
XM_005246281.2:c.5013_5017del	XP_005246338.1:p.Glu1672ProfsTer17
XM_005246282.2:c.4458_4462del	XP_005246339.1:p.Glu1487ProfsTer17
XM_006712246.2:c.4824_4828del	XP_006712309.1:p.Glu1609ProfsTer17
XM_006712249.2:c.4809+633_4809+637del	XP_006712312.1:n.4809+633_4809+637del
XM_006712252.2:c.4216+14663_4216+14667del	XP_006712315.1:n.4216+14663_4216+14667del
XM_011510557.1:c.4932_4936del	XP_011508859.1:p.Glu1645ProfsTer17
XM_011510558.1:c.4905_4909del	XP_011508860.1:p.Glu1636ProfsTer17
XM_011510559.1:c.4809+633_4809+637del	XP_011508861.1:n.4809+633_4809+637del
XM_011510560.1:c.4809+633_4809+637del	XP_011508862.1:n.4809+633_4809+637del
XM_011510561.1:c.4809+633_4809+637del	XP_011508863.1:n.4809+633_4809+637del
XM_011510562.1:c.4809+633_4809+637del	XP_011508864.1:n.4809+633_4809+637del
XM_011510565.1:c.4216+14663_4216+14667del	XP_011508867.1:n.4216+14663_4216+14667del
XM_011510566.1:c.4216+14663_4216+14667del	XP_011508868.1:n.4216+14663_4216+14667del
XM_011510567.1:c.4216+14663_4216+14667del	XP_011508869.1:n.4216+14663_4216+14667del
XM_011510569.1:c.4216+14663_4216+14667del	XP_011508871.1:n.4216+14663_4216+14667del
XM_011510570.1:c.4216+14663_4216+14667del	XP_011508872.1:n.4216+14663_4216+14667del
XM_011510571.1:c.4216+14663_4216+14667del	XP_011508873.1:n.4216+14663_4216+14667del
XM_011510572.1:c.3339_3343del	XP_011508874.1:p.Glu1114ProfsTer17
XR_922837.1:n.5119+633_5119+637del
XR_922838.1:n.5119+633_5119+637del
XR_922839.1:n.4526+14663_4526+14667del
XR_922840.1:n.4526+14663_4526+14667del
XM_005246281.3:c.5013_5017del	XP_005246338.1:p.Glu1672ProfsTer17
XM_005246282.3:c.4458_4462del	XP_005246339.1:p.Glu1487ProfsTer17
XM_006712246.3:c.4824_4828del	XP_006712309.1:p.Glu1609ProfsTer17
XM_011510557.2:c.4932_4936del	XP_011508859.1:p.Glu1645ProfsTer17
XM_011510558.2:c.4905_4909del	XP_011508860.1:p.Glu1636ProfsTer17
XM_011510559.2:c.4809+633_4809+637del	XP_011508861.1:n.4809+633_4809+637del
XM_011510560.2:c.4809+633_4809+637del	XP_011508862.1:n.4809+633_4809+637del
XM_011510561.2:c.4809+633_4809+637del	XP_011508863.1:n.4809+633_4809+637del
XM_011510562.2:c.4809+633_4809+637del	XP_011508864.1:n.4809+633_4809+637del
XM_011510565.2:c.4216+14663_4216+14667del	XP_011508867.1:n.4216+14663_4216+14667del
XM_011510566.2:c.4216+14663_4216+14667del	XP_011508868.1:n.4216+14663_4216+14667del
XM_011510567.2:c.4216+14663_4216+14667del	XP_011508869.1:n.4216+14663_4216+14667del
XM_011510569.2:c.4216+14663_4216+14667del	XP_011508871.1:n.4216+14663_4216+14667del
XM_011510570.2:c.4216+14663_4216+14667del	XP_011508872.1:n.4216+14663_4216+14667del
XM_011510572.3:c.3339_3343del	XP_011508874.1:p.Glu1114ProfsTer17
XM_017003297.1:c.4896_4900del	XP_016858786.1:p.Glu1633ProfsTer17
XM_017003298.1:c.4809+633_4809+637del	XP_016858787.1:n.4809+633_4809+637del
XM_017003300.1:c.4216+14663_4216+14667del	XP_016858789.1:n.4216+14663_4216+14667del
XR_001738602.1:n.5135+633_5135+637del
XR_001738603.1:n.5135+633_5135+637del
XR_001738604.1:n.5085_5089del
XR_001738606.1:n.4542+14663_4542+14667del
XR_001738607.1:n.4542+14663_4542+14667del
XR_922837.2:n.5135+633_5135+637del
NM_000092.5:c.5013_5017del MANE Select	NP_000083.3:p.Glu1672ProfsTer17