Canonical Allele Identifier: CA658653803

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 439345
• ClinVar RCV Id: RCV000508315
• dbSNP Id: rs1555176123
• MyVariant Identifiers: chr12:g.21958190dup (hg19) ; chr12:g.21805256dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805256dup , CM000674.2:g.21805256dup	GRCh38
NC_000012.11:g.21958190dup , CM000674.1:g.21958190dup	GRCh37
NC_000012.10:g.21849457dup	NCBI36
NG_012819.1:g.136442dup , LRG_377:g.136442dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4571dup	ENSP00000261201.4:p.Leu1524PhefsTer5
ENST00000682426.1:n.2089+745dup
ENST00000682879.1:c.*3610+745dup	ENSP00000508210.1:n.*3610+745dup
ENST00000683105.1:c.*536+745dup	ENSP00000506801.1:n.*536+745dup
ENST00000683676.1:c.4212-6115dup	ENSP00000508167.1:n.4212-6115dup
ENST00000683695.1:n.977+745dup
ENST00000684084.1:c.4461+745dup	ENSP00000507859.1:n.4461+745dup
ENST00000261200.9:c.4512+745dup MANE Select	ENSP00000261200.4:n.4512+745dup
ENST00000261201.9:c.4571dup	ENSP00000261201.4:p.Leu1524PhefsTer5
ENST00000261200.8:c.4512+745dup	ENSP00000261200.4:n.4512+745dup
ENST00000261201.8:c.4571dup	ENSP00000261201.4:p.Leu1524PhefsTer5
ENST00000544039.5:c.3452dup	ENSP00000440521.1:p.Leu1151PhefsTer5
NM_005691.3:c.4571dup	NP_005682.2:p.Leu1524PhefsTer5
NM_020297.3:c.4512+745dup	NP_064693.2:n.4512+745dup
XM_005253284.2:c.4512+745dup	XP_005253341.1:n.4512+745dup
XM_005253286.2:c.4512+745dup	XP_005253343.1:n.4512+745dup
XM_005253287.3:c.4571dup	XP_005253344.1:p.Leu1524PhefsTer5
XM_005253288.2:c.4512+745dup	XP_005253345.1:n.4512+745dup
XM_005253289.2:c.4473+745dup	XP_005253346.1:n.4473+745dup
XM_005253290.2:c.4371+745dup	XP_005253347.1:n.4371+745dup
XM_006719025.2:c.4532dup	XP_006719088.1:p.Leu1511PhefsTer5
XM_011520545.1:c.4512+745dup	XP_011518847.1:n.4512+745dup
XR_931420.1:n.632-21954dup
XR_931421.1:n.632-21954dup
XR_931422.1:n.306-21954dup
XM_005253284.4:c.4512+745dup	XP_005253341.1:n.4512+745dup
XM_005253286.4:c.4512+745dup	XP_005253343.1:n.4512+745dup
XM_005253287.5:c.4571dup	XP_005253344.1:p.Leu1524PhefsTer5
XM_005253288.4:c.4512+745dup	XP_005253345.1:n.4512+745dup
XM_005253289.4:c.4473+745dup	XP_005253346.1:n.4473+745dup
XM_005253290.4:c.4371+745dup	XP_005253347.1:n.4371+745dup
XM_006719025.4:c.4532dup	XP_006719088.1:p.Leu1511PhefsTer5
XM_011520545.3:c.4512+745dup	XP_011518847.1:n.4512+745dup
XR_931420.3:n.632-21954dup
XR_931422.2:n.318-21954dup
NM_001377273.1:c.4512+745dup	NP_001364202.1:n.4512+745dup
NM_001377274.1:c.3645+745dup	NP_001364203.1:n.3645+745dup
NM_005691.4:c.4571dup	NP_005682.2:p.Leu1524PhefsTer5
NM_020297.4:c.4512+745dup MANE Select	NP_064693.2:n.4512+745dup