Canonical Allele Identifier: CA2573148462

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 1446144
• ClinVar RCV Id: RCV001985412
• dbSNP Id: rs2137837524

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21906144del , CM000674.2:g.21906144del	GRCh38
NC_000012.11:g.22059078del , CM000674.1:g.22059078del	GRCh37
NC_000012.10:g.21950345del	NCBI36
NG_012819.1:g.35551del , LRG_377:g.35551del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261201.10:c.1600del	ENSP00000261201.4:p.Leu534TyrfsTer9
ENST00000682068.1:c.1600del	ENSP00000507226.1:p.Leu534TyrfsTer9
ENST00000682789.1:n.1851del
ENST00000682879.1:c.*701del	ENSP00000508210.1:n.*701del
ENST00000683105.1:c.1600del	ENSP00000506801.1:p.Leu534TyrfsTer9
ENST00000683676.1:c.1600del	ENSP00000508167.1:p.Leu534TyrfsTer9
ENST00000684084.1:c.1600del	ENSP00000507859.1:p.Leu534TyrfsTer9
ENST00000684543.1:n.1945del
ENST00000261200.9:c.1600del MANE Select	ENSP00000261200.4:p.Leu534TyrfsTer9
ENST00000261201.9:c.1600del	ENSP00000261201.4:p.Leu534TyrfsTer9
ENST00000261200.8:c.1600del	ENSP00000261200.4:p.Leu534TyrfsTer9
ENST00000261201.8:c.1600del	ENSP00000261201.4:p.Leu534TyrfsTer9
ENST00000544039.5:c.589del	ENSP00000440521.1:p.Leu197TyrfsTer9
NM_005691.3:c.1600del	NP_005682.2:p.Leu534TyrfsTer9
NM_020297.3:c.1600del	NP_064693.2:p.Leu534TyrfsTer9
XM_005253284.2:c.1600del	XP_005253341.1:p.Leu534TyrfsTer9
XM_005253286.2:c.1600del	XP_005253343.1:p.Leu534TyrfsTer9
XM_005253287.3:c.1600del	XP_005253344.1:p.Leu534TyrfsTer9
XM_005253288.2:c.1600del	XP_005253345.1:p.Leu534TyrfsTer9
XM_005253289.2:c.1600del	XP_005253346.1:p.Leu534TyrfsTer9
XM_005253290.2:c.1600del	XP_005253347.1:p.Leu534TyrfsTer9
XM_006719025.2:c.1600del	XP_006719088.1:p.Leu534TyrfsTer9
XM_011520545.1:c.1600del	XP_011518847.1:p.Leu534TyrfsTer9
XM_005253284.4:c.1600del	XP_005253341.1:p.Leu534TyrfsTer9
XM_005253286.4:c.1600del	XP_005253343.1:p.Leu534TyrfsTer9
XM_005253287.5:c.1600del	XP_005253344.1:p.Leu534TyrfsTer9
XM_005253288.4:c.1600del	XP_005253345.1:p.Leu534TyrfsTer9
XM_005253289.4:c.1600del	XP_005253346.1:p.Leu534TyrfsTer9
XM_005253290.4:c.1600del	XP_005253347.1:p.Leu534TyrfsTer9
XM_006719025.4:c.1600del	XP_006719088.1:p.Leu534TyrfsTer9
XM_011520545.3:c.1600del	XP_011518847.1:p.Leu534TyrfsTer9
NM_001377273.1:c.1600del	NP_001364202.1:p.Leu534TyrfsTer9
NM_001377274.1:c.736del	NP_001364203.1:p.Leu246TyrfsTer9
NM_005691.4:c.1600del	NP_005682.2:p.Leu534TyrfsTer9
NM_020297.4:c.1600del MANE Select	NP_064693.2:p.Leu534TyrfsTer9