Canonical Allele Identifier: CA603674290

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 1367838
• ClinVar RCV Id: RCV001947505
• dbSNP Id: rs1272651352
• gnomAD v2: 12-21958230-TAGAAGAGACAC-T
• gnomAD v4: 12-21805296-TAGAAGAGACAC-T
• MyVariant Identifiers: chr12:g.21958231_21958241del (hg19) ; chr12:g.21805297_21805307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805297_21805307del , CM000674.2:g.21805297_21805307del	GRCh38
NC_000012.11:g.21958231_21958241del , CM000674.1:g.21958231_21958241del	GRCh37
NC_000012.10:g.21849498_21849508del	NCBI36
NG_012819.1:g.136388_136398del , LRG_377:g.136388_136398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4517_4527del	ENSP00000261201.4:p.Arg1506HisfsTer12
ENST00000682426.1:n.2089+691_2089+701del
ENST00000682879.1:c.*3610+691_*3610+701del	ENSP00000508210.1:n.*3610+691_*3610+701del
ENST00000683105.1:c.*536+691_*536+701del	ENSP00000506801.1:n.*536+691_*536+701del
ENST00000683676.1:c.4212-6169_4212-6159del	ENSP00000508167.1:n.4212-6169_4212-6159del
ENST00000683695.1:n.977+691_977+701del
ENST00000684084.1:c.4461+691_4461+701del	ENSP00000507859.1:n.4461+691_4461+701del
ENST00000261200.9:c.4512+691_4512+701del MANE Select	ENSP00000261200.4:n.4512+691_4512+701del
ENST00000261201.9:c.4517_4527del	ENSP00000261201.4:p.Arg1506HisfsTer12
ENST00000261200.8:c.4512+691_4512+701del	ENSP00000261200.4:n.4512+691_4512+701del
ENST00000261201.8:c.4517_4527del	ENSP00000261201.4:p.Arg1506HisfsTer12
ENST00000544039.5:c.3398_3408del	ENSP00000440521.1:p.Arg1133HisfsTer12
NM_005691.3:c.4517_4527del	NP_005682.2:p.Arg1506HisfsTer12
NM_020297.3:c.4512+691_4512+701del	NP_064693.2:n.4512+691_4512+701del
XM_005253284.2:c.4512+691_4512+701del	XP_005253341.1:n.4512+691_4512+701del
XM_005253286.2:c.4512+691_4512+701del	XP_005253343.1:n.4512+691_4512+701del
XM_005253287.3:c.4517_4527del	XP_005253344.1:p.Arg1506HisfsTer12
XM_005253288.2:c.4512+691_4512+701del	XP_005253345.1:n.4512+691_4512+701del
XM_005253289.2:c.4473+691_4473+701del	XP_005253346.1:n.4473+691_4473+701del
XM_005253290.2:c.4371+691_4371+701del	XP_005253347.1:n.4371+691_4371+701del
XM_006719025.2:c.4478_4488del	XP_006719088.1:p.Arg1493HisfsTer12
XM_011520545.1:c.4512+691_4512+701del	XP_011518847.1:n.4512+691_4512+701del
XR_931420.1:n.632-21913_632-21903del
XR_931421.1:n.632-21913_632-21903del
XR_931422.1:n.306-21913_306-21903del
XM_005253284.4:c.4512+691_4512+701del	XP_005253341.1:n.4512+691_4512+701del
XM_005253286.4:c.4512+691_4512+701del	XP_005253343.1:n.4512+691_4512+701del
XM_005253287.5:c.4517_4527del	XP_005253344.1:p.Arg1506HisfsTer12
XM_005253288.4:c.4512+691_4512+701del	XP_005253345.1:n.4512+691_4512+701del
XM_005253289.4:c.4473+691_4473+701del	XP_005253346.1:n.4473+691_4473+701del
XM_005253290.4:c.4371+691_4371+701del	XP_005253347.1:n.4371+691_4371+701del
XM_006719025.4:c.4478_4488del	XP_006719088.1:p.Arg1493HisfsTer12
XM_011520545.3:c.4512+691_4512+701del	XP_011518847.1:n.4512+691_4512+701del
XR_931420.3:n.632-21913_632-21903del
XR_931422.2:n.318-21913_318-21903del
NM_001377273.1:c.4512+691_4512+701del	NP_001364202.1:n.4512+691_4512+701del
NM_001377274.1:c.3645+691_3645+701del	NP_001364203.1:n.3645+691_3645+701del
NM_005691.4:c.4517_4527del	NP_005682.2:p.Arg1506HisfsTer12
NM_020297.4:c.4512+691_4512+701del MANE Select	NP_064693.2:n.4512+691_4512+701del