Canonical Allele Identifier: CA658796189

Gene: COL4A4

Linked Data

• ClinVar Variation Id: 522488
• ClinVar RCV Id: RCV000625630
• dbSNP Id: rs1553612433
• MyVariant Identifiers: chr2:g.227872830_227872849del (hg19) ; chr2:g.227008114_227008133del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227008117_227008136del , CM000664.2:g.227008117_227008136del	GRCh38
NC_000002.11:g.227872833_227872852del , CM000664.1:g.227872833_227872852del	GRCh37
NC_000002.10:g.227581077_227581096del	NCBI36
NG_011592.1:g.161427_161446del , LRG_231:g.161427_161446del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682098.1:c.296_315del	ENSP00000508331.1:p.Arg99ProfsTer?
ENST00000396625.5:c.4694_4713del MANE Select	ENSP00000379866.3:p.Arg1565ProfsTer?
ENST00000396625.3:c.4694_4713del	ENSP00000379866.3:p.Arg1565ProfsTer?
NM_000092.4:c.4694_4713del , LRG_231t1:c.4694_4713del	NP_000083.3:p.Arg1565ProfsTer?
XM_005246281.2:c.4694_4713del	XP_005246338.1:p.Arg1565ProfsTer?
XM_005246282.2:c.4139_4158del	XP_005246339.1:p.Arg1380ProfsTer?
XM_006712246.2:c.4505_4524del	XP_006712309.1:p.Arg1502ProfsTer?
XM_006712249.2:c.4694_4713del	XP_006712312.1:p.Arg1565ProfsTer?
XM_006712252.2:c.4216+13915_4216+13934del	XP_006712315.1:n.4216+13915_4216+13934del...
XM_011510557.1:c.4613_4632del	XP_011508859.1:p.Arg1538ProfsTer?
XM_011510558.1:c.4586_4605del	XP_011508860.1:p.Arg1529ProfsTer?
XM_011510559.1:c.4694_4713del	XP_011508861.1:p.Arg1565ProfsTer?
XM_011510560.1:c.4694_4713del	XP_011508862.1:p.Arg1565ProfsTer?
XM_011510561.1:c.4694_4713del	XP_011508863.1:p.Arg1565ProfsTer?
XM_011510562.1:c.4694_4713del	XP_011508864.1:p.Arg1565ProfsTer?
XM_011510563.1:c.*27_*46del	XP_011508865.1:n.*27_*46del
XM_011510564.1:c.*27_*46del	XP_011508866.1:n.*27_*46del
XM_011510565.1:c.4216+13915_4216+13934del	XP_011508867.1:n.4216+13915_4216+13934del...
XM_011510566.1:c.4216+13915_4216+13934del	XP_011508868.1:n.4216+13915_4216+13934del...
XM_011510567.1:c.4216+13915_4216+13934del	XP_011508869.1:n.4216+13915_4216+13934del...
XM_011510569.1:c.4216+13915_4216+13934del	XP_011508871.1:n.4216+13915_4216+13934del...
XM_011510570.1:c.4216+13915_4216+13934del	XP_011508872.1:n.4216+13915_4216+13934del...
XM_011510571.1:c.4216+13915_4216+13934del	XP_011508873.1:n.4216+13915_4216+13934del...
XM_011510572.1:c.3020_3039del	XP_011508874.1:p.Arg1007ProfsTer?
XR_922837.1:n.5004_5023del
XR_922838.1:n.5004_5023del
XR_922839.1:n.4526+13915_4526+13934del
XR_922840.1:n.4526+13915_4526+13934del
XM_005246281.3:c.4694_4713del	XP_005246338.1:p.Arg1565ProfsTer?
XM_005246282.3:c.4139_4158del	XP_005246339.1:p.Arg1380ProfsTer?
XM_006712246.3:c.4505_4524del	XP_006712309.1:p.Arg1502ProfsTer?
XM_011510557.2:c.4613_4632del	XP_011508859.1:p.Arg1538ProfsTer?
XM_011510558.2:c.4586_4605del	XP_011508860.1:p.Arg1529ProfsTer?
XM_011510559.2:c.4694_4713del	XP_011508861.1:p.Arg1565ProfsTer?
XM_011510560.2:c.4694_4713del	XP_011508862.1:p.Arg1565ProfsTer?
XM_011510561.2:c.4694_4713del	XP_011508863.1:p.Arg1565ProfsTer?
XM_011510562.2:c.4694_4713del	XP_011508864.1:p.Arg1565ProfsTer?
XM_011510565.2:c.4216+13915_4216+13934del	XP_011508867.1:n.4216+13915_4216+13934del...
XM_011510566.2:c.4216+13915_4216+13934del	XP_011508868.1:n.4216+13915_4216+13934del...
XM_011510567.2:c.4216+13915_4216+13934del	XP_011508869.1:n.4216+13915_4216+13934del...
XM_011510569.2:c.4216+13915_4216+13934del	XP_011508871.1:n.4216+13915_4216+13934del...
XM_011510570.2:c.4216+13915_4216+13934del	XP_011508872.1:n.4216+13915_4216+13934del...
XM_011510572.3:c.3020_3039del	XP_011508874.1:p.Arg1007ProfsTer?
XM_017003296.1:c.4694_4713del	XP_016858785.1:p.Arg1565ProfsTer?
XM_017003297.1:c.4577_4596del	XP_016858786.1:p.Arg1526ProfsTer?
XM_017003298.1:c.4694_4713del	XP_016858787.1:p.Arg1565ProfsTer?
XM_017003300.1:c.4216+13915_4216+13934del	XP_016858789.1:n.4216+13915_4216+13934del...
XR_001738602.1:n.5020_5039del
XR_001738603.1:n.5020_5039del
XR_001738604.1:n.4766_4785del
XR_001738606.1:n.4542+13915_4542+13934del
XR_001738607.1:n.4542+13915_4542+13934del
XR_922837.2:n.5020_5039del
NM_000092.5:c.4694_4713del MANE Select	NP_000083.3:p.Arg1565ProfsTer?