Canonical Allele Identifier: CA1043044372

Gene: COL4A4

Linked Data

• gnomAD v3: 2-227007933-T-TTAC
• gnomAD v4: 2-227007933-T-TTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227007935_227007937dup , CM000664.2:g.227007935_227007937dup	GRCh38
NC_000002.11:g.227872651_227872653dup , CM000664.1:g.227872651_227872653dup	GRCh37
NC_000002.10:g.227580895_227580897dup	NCBI36
NG_011592.1:g.161624_161626dup , LRG_231:g.161624_161626dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682098.1:c.411+82_411+84dup	ENSP00000508331.1:n.411+82_411+84dup
ENST00000396625.5:c.4809+82_4809+84dup MANE Select	ENSP00000379866.3:n.4809+82_4809+84dup
ENST00000396625.3:c.4809+82_4809+84dup	ENSP00000379866.3:n.4809+82_4809+84dup
NM_000092.4:c.4809+82_4809+84dup , LRG_231t1:c.4809+82_4809+84dup	NP_000083.3:n.4809+82_4809+84dup
XM_005246281.2:c.4809+82_4809+84dup	XP_005246338.1:n.4809+82_4809+84dup
XM_005246282.2:c.4254+82_4254+84dup	XP_005246339.1:n.4254+82_4254+84dup
XM_006712246.2:c.4620+82_4620+84dup	XP_006712309.1:n.4620+82_4620+84dup
XM_006712249.2:c.4809+82_4809+84dup	XP_006712312.1:n.4809+82_4809+84dup
XM_006712252.2:c.4216+14112_4216+14114dup	XP_006712315.1:n.4216+14112_4216+14114dup
XM_011510557.1:c.4728+82_4728+84dup	XP_011508859.1:n.4728+82_4728+84dup
XM_011510558.1:c.4701+82_4701+84dup	XP_011508860.1:n.4701+82_4701+84dup
XM_011510559.1:c.4809+82_4809+84dup	XP_011508861.1:n.4809+82_4809+84dup
XM_011510560.1:c.4809+82_4809+84dup	XP_011508862.1:n.4809+82_4809+84dup
XM_011510561.1:c.4809+82_4809+84dup	XP_011508863.1:n.4809+82_4809+84dup
XM_011510562.1:c.4809+82_4809+84dup	XP_011508864.1:n.4809+82_4809+84dup
XM_011510563.1:c.*224_*226dup	XP_011508865.1:n.*224_*226dup
XM_011510564.1:c.*224_*226dup	XP_011508866.1:n.*224_*226dup
XM_011510565.1:c.4216+14112_4216+14114dup	XP_011508867.1:n.4216+14112_4216+14114dup
XM_011510566.1:c.4216+14112_4216+14114dup	XP_011508868.1:n.4216+14112_4216+14114dup
XM_011510567.1:c.4216+14112_4216+14114dup	XP_011508869.1:n.4216+14112_4216+14114dup
XM_011510569.1:c.4216+14112_4216+14114dup	XP_011508871.1:n.4216+14112_4216+14114dup
XM_011510570.1:c.4216+14112_4216+14114dup	XP_011508872.1:n.4216+14112_4216+14114dup
XM_011510571.1:c.4216+14112_4216+14114dup	XP_011508873.1:n.4216+14112_4216+14114dup
XM_011510572.1:c.3135+82_3135+84dup	XP_011508874.1:n.3135+82_3135+84dup
XR_922837.1:n.5119+82_5119+84dup
XR_922838.1:n.5119+82_5119+84dup
XR_922839.1:n.4526+14112_4526+14114dup
XR_922840.1:n.4526+14112_4526+14114dup
XM_005246281.3:c.4809+82_4809+84dup	XP_005246338.1:n.4809+82_4809+84dup
XM_005246282.3:c.4254+82_4254+84dup	XP_005246339.1:n.4254+82_4254+84dup
XM_006712246.3:c.4620+82_4620+84dup	XP_006712309.1:n.4620+82_4620+84dup
XM_011510557.2:c.4728+82_4728+84dup	XP_011508859.1:n.4728+82_4728+84dup
XM_011510558.2:c.4701+82_4701+84dup	XP_011508860.1:n.4701+82_4701+84dup
XM_011510559.2:c.4809+82_4809+84dup	XP_011508861.1:n.4809+82_4809+84dup
XM_011510560.2:c.4809+82_4809+84dup	XP_011508862.1:n.4809+82_4809+84dup
XM_011510561.2:c.4809+82_4809+84dup	XP_011508863.1:n.4809+82_4809+84dup
XM_011510562.2:c.4809+82_4809+84dup	XP_011508864.1:n.4809+82_4809+84dup
XM_011510565.2:c.4216+14112_4216+14114dup	XP_011508867.1:n.4216+14112_4216+14114dup
XM_011510566.2:c.4216+14112_4216+14114dup	XP_011508868.1:n.4216+14112_4216+14114dup
XM_011510567.2:c.4216+14112_4216+14114dup	XP_011508869.1:n.4216+14112_4216+14114dup
XM_011510569.2:c.4216+14112_4216+14114dup	XP_011508871.1:n.4216+14112_4216+14114dup
XM_011510570.2:c.4216+14112_4216+14114dup	XP_011508872.1:n.4216+14112_4216+14114dup
XM_011510572.3:c.3135+82_3135+84dup	XP_011508874.1:n.3135+82_3135+84dup
XM_017003296.1:c.4891_4893dup	XP_016858785.1:p.Val1631_Ile1632insVal
XM_017003297.1:c.4692+82_4692+84dup	XP_016858786.1:n.4692+82_4692+84dup
XM_017003298.1:c.4809+82_4809+84dup	XP_016858787.1:n.4809+82_4809+84dup
XM_017003300.1:c.4216+14112_4216+14114dup	XP_016858789.1:n.4216+14112_4216+14114dup
XR_001738602.1:n.5135+82_5135+84dup
XR_001738603.1:n.5135+82_5135+84dup
XR_001738604.1:n.4881+82_4881+84dup
XR_001738606.1:n.4542+14112_4542+14114dup
XR_001738607.1:n.4542+14112_4542+14114dup
XR_922837.2:n.5135+82_5135+84dup
NM_000092.5:c.4809+82_4809+84dup MANE Select	NP_000083.3:n.4809+82_4809+84dup