Canonical Allele Identifier: CA2144083

Gene: COL4A4

Linked Data

• dbSNP Id: rs772457149
• ExAC: 2:227872815 C / CACCGCCTGGGCCGGGGCCTCGCAT
• gnomAD v2: 2-227872815-C-CACCGCCTGGGCCGGGGCCTCGCAT
• gnomAD v4: 2-227008099-C-CACCGCCTGGGCCGGGGCCTCGCAT
• MyVariant Identifiers: chr2:g.227872815_227872816insACCGCCTGGGCCGGGGCCTCGCAT (hg19) ; chr2:g.227008099_227008100insACCGCCTGGGCCGGGGCCTCGCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227008105_227008128dup , CM000664.2:g.227008105_227008128dup	GRCh38
NC_000002.11:g.227872821_227872844dup , CM000664.1:g.227872821_227872844dup	GRCh37
NC_000002.10:g.227581065_227581088dup	NCBI36
NG_011592.1:g.161437_161460dup , LRG_231:g.161437_161460dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682098.1:c.306_329dup	ENSP00000508331.1:p.Val110_Ala111insCysGl...
ENST00000396625.5:c.4704_4727dup MANE Select	ENSP00000379866.3:p.Val1576_Ala1577insCys...
ENST00000396625.3:c.4704_4727dup	ENSP00000379866.3:p.Val1576_Ala1577insCys...
NM_000092.4:c.4704_4727dup , LRG_231t1:c.4704_4727dup	NP_000083.3:p.Val1576_Ala1577insCysGluAla...
XM_005246281.2:c.4704_4727dup	XP_005246338.1:p.Val1576_Ala1577insCysGlu...
XM_005246282.2:c.4149_4172dup	XP_005246339.1:p.Val1391_Ala1392insCysGlu...
XM_006712246.2:c.4515_4538dup	XP_006712309.1:p.Val1513_Ala1514insCysGlu...
XM_006712249.2:c.4704_4727dup	XP_006712312.1:p.Val1576_Ala1577insCysGlu...
XM_006712252.2:c.4216+13925_4216+13948dup	XP_006712315.1:n.4216+13925_4216+13948dup...
XM_011510557.1:c.4623_4646dup	XP_011508859.1:p.Val1549_Ala1550insCysGlu...
XM_011510558.1:c.4596_4619dup	XP_011508860.1:p.Val1540_Ala1541insCysGlu...
XM_011510559.1:c.4704_4727dup	XP_011508861.1:p.Val1576_Ala1577insCysGlu...
XM_011510560.1:c.4704_4727dup	XP_011508862.1:p.Val1576_Ala1577insCysGlu...
XM_011510561.1:c.4704_4727dup	XP_011508863.1:p.Val1576_Ala1577insCysGlu...
XM_011510562.1:c.4704_4727dup	XP_011508864.1:p.Val1576_Ala1577insCysGlu...
XM_011510563.1:c.*37_*60dup	XP_011508865.1:n.*37_*60dup
XM_011510564.1:c.*37_*60dup	XP_011508866.1:n.*37_*60dup
XM_011510565.1:c.4216+13925_4216+13948dup	XP_011508867.1:n.4216+13925_4216+13948dup...
XM_011510566.1:c.4216+13925_4216+13948dup	XP_011508868.1:n.4216+13925_4216+13948dup...
XM_011510567.1:c.4216+13925_4216+13948dup	XP_011508869.1:n.4216+13925_4216+13948dup...
XM_011510569.1:c.4216+13925_4216+13948dup	XP_011508871.1:n.4216+13925_4216+13948dup...
XM_011510570.1:c.4216+13925_4216+13948dup	XP_011508872.1:n.4216+13925_4216+13948dup...
XM_011510571.1:c.4216+13925_4216+13948dup	XP_011508873.1:n.4216+13925_4216+13948dup...
XM_011510572.1:c.3030_3053dup	XP_011508874.1:p.Val1018_Ala1019insCysGlu...
XR_922837.1:n.5014_5037dup
XR_922838.1:n.5014_5037dup
XR_922839.1:n.4526+13925_4526+13948dup
XR_922840.1:n.4526+13925_4526+13948dup
XM_005246281.3:c.4704_4727dup	XP_005246338.1:p.Val1576_Ala1577insCysGlu...
XM_005246282.3:c.4149_4172dup	XP_005246339.1:p.Val1391_Ala1392insCysGlu...
XM_006712246.3:c.4515_4538dup	XP_006712309.1:p.Val1513_Ala1514insCysGlu...
XM_011510557.2:c.4623_4646dup	XP_011508859.1:p.Val1549_Ala1550insCysGlu...
XM_011510558.2:c.4596_4619dup	XP_011508860.1:p.Val1540_Ala1541insCysGlu...
XM_011510559.2:c.4704_4727dup	XP_011508861.1:p.Val1576_Ala1577insCysGlu...
XM_011510560.2:c.4704_4727dup	XP_011508862.1:p.Val1576_Ala1577insCysGlu...
XM_011510561.2:c.4704_4727dup	XP_011508863.1:p.Val1576_Ala1577insCysGlu...
XM_011510562.2:c.4704_4727dup	XP_011508864.1:p.Val1576_Ala1577insCysGlu...
XM_011510565.2:c.4216+13925_4216+13948dup	XP_011508867.1:n.4216+13925_4216+13948dup...
XM_011510566.2:c.4216+13925_4216+13948dup	XP_011508868.1:n.4216+13925_4216+13948dup...
XM_011510567.2:c.4216+13925_4216+13948dup	XP_011508869.1:n.4216+13925_4216+13948dup...
XM_011510569.2:c.4216+13925_4216+13948dup	XP_011508871.1:n.4216+13925_4216+13948dup...
XM_011510570.2:c.4216+13925_4216+13948dup	XP_011508872.1:n.4216+13925_4216+13948dup...
XM_011510572.3:c.3030_3053dup	XP_011508874.1:p.Val1018_Ala1019insCysGlu...
XM_017003296.1:c.4704_4727dup	XP_016858785.1:p.Val1576_Ala1577insCysGlu...
XM_017003297.1:c.4587_4610dup	XP_016858786.1:p.Val1537_Ala1538insCysGlu...
XM_017003298.1:c.4704_4727dup	XP_016858787.1:p.Val1576_Ala1577insCysGlu...
XM_017003300.1:c.4216+13925_4216+13948dup	XP_016858789.1:n.4216+13925_4216+13948dup...
XR_001738602.1:n.5030_5053dup
XR_001738603.1:n.5030_5053dup
XR_001738604.1:n.4776_4799dup
XR_001738606.1:n.4542+13925_4542+13948dup
XR_001738607.1:n.4542+13925_4542+13948dup
XR_922837.2:n.5030_5053dup
NM_000092.5:c.4704_4727dup MANE Select	NP_000083.3:p.Val1576_Ala1577insCysGluAla...