Canonical Allele Identifier: CA2580615149

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 2026080
• ClinVar RCV Id: RCV002858300
• gnomAD v4: 12-21805303-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805306_21805307del , CM000674.2:g.21805306_21805307del	GRCh38
NC_000012.11:g.21958240_21958241del , CM000674.1:g.21958240_21958241del	GRCh37
NC_000012.10:g.21849507_21849508del	NCBI36
NG_012819.1:g.136390_136391del , LRG_377:g.136390_136391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4519_4520del	ENSP00000261201.4:p.Val1507LeufsTer14
ENST00000682426.1:n.2089+693_2089+694del
ENST00000682879.1:c.*3610+693_*3610+694del	ENSP00000508210.1:n.*3610+693_*3610+694del
ENST00000683105.1:c.*536+693_*536+694del	ENSP00000506801.1:n.*536+693_*536+694del
ENST00000683676.1:c.4212-6167_4212-6166del	ENSP00000508167.1:n.4212-6167_4212-6166del
ENST00000683695.1:n.977+693_977+694del
ENST00000684084.1:c.4461+693_4461+694del	ENSP00000507859.1:n.4461+693_4461+694del
ENST00000261200.9:c.4512+693_4512+694del MANE Select	ENSP00000261200.4:n.4512+693_4512+694del
ENST00000261201.9:c.4519_4520del	ENSP00000261201.4:p.Val1507LeufsTer14
ENST00000261200.8:c.4512+693_4512+694del	ENSP00000261200.4:n.4512+693_4512+694del
ENST00000261201.8:c.4519_4520del	ENSP00000261201.4:p.Val1507LeufsTer14
ENST00000544039.5:c.3400_3401del	ENSP00000440521.1:p.Val1134LeufsTer14
NM_005691.3:c.4519_4520del	NP_005682.2:p.Val1507LeufsTer14
NM_020297.3:c.4512+693_4512+694del	NP_064693.2:n.4512+693_4512+694del
XM_005253284.2:c.4512+693_4512+694del	XP_005253341.1:n.4512+693_4512+694del
XM_005253286.2:c.4512+693_4512+694del	XP_005253343.1:n.4512+693_4512+694del
XM_005253287.3:c.4519_4520del	XP_005253344.1:p.Val1507LeufsTer14
XM_005253288.2:c.4512+693_4512+694del	XP_005253345.1:n.4512+693_4512+694del
XM_005253289.2:c.4473+693_4473+694del	XP_005253346.1:n.4473+693_4473+694del
XM_005253290.2:c.4371+693_4371+694del	XP_005253347.1:n.4371+693_4371+694del
XM_006719025.2:c.4480_4481del	XP_006719088.1:p.Val1494LeufsTer14
XM_011520545.1:c.4512+693_4512+694del	XP_011518847.1:n.4512+693_4512+694del
XR_931420.1:n.632-21904_632-21903del
XR_931421.1:n.632-21904_632-21903del
XR_931422.1:n.306-21904_306-21903del
XM_005253284.4:c.4512+693_4512+694del	XP_005253341.1:n.4512+693_4512+694del
XM_005253286.4:c.4512+693_4512+694del	XP_005253343.1:n.4512+693_4512+694del
XM_005253287.5:c.4519_4520del	XP_005253344.1:p.Val1507LeufsTer14
XM_005253288.4:c.4512+693_4512+694del	XP_005253345.1:n.4512+693_4512+694del
XM_005253289.4:c.4473+693_4473+694del	XP_005253346.1:n.4473+693_4473+694del
XM_005253290.4:c.4371+693_4371+694del	XP_005253347.1:n.4371+693_4371+694del
XM_006719025.4:c.4480_4481del	XP_006719088.1:p.Val1494LeufsTer14
XM_011520545.3:c.4512+693_4512+694del	XP_011518847.1:n.4512+693_4512+694del
XR_931420.3:n.632-21904_632-21903del
XR_931422.2:n.318-21904_318-21903del
NM_001377273.1:c.4512+693_4512+694del	NP_001364202.1:n.4512+693_4512+694del
NM_001377274.1:c.3645+693_3645+694del	NP_001364203.1:n.3645+693_3645+694del
NM_005691.4:c.4519_4520del	NP_005682.2:p.Val1507LeufsTer14
NM_020297.4:c.4512+693_4512+694del MANE Select	NP_064693.2:n.4512+693_4512+694del