Canonical Allele Identifier: CA238373

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 192108
• ClinVar RCV Id: RCV000172508 ; RCV000850523 ; RCV001798620 ; RCV003619655
• dbSNP Id: rs761784169
• MyVariant Identifiers: chr12:g.21958185_21958186insA (hg19) ; chr12:g.21805251_21805252insA (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805251_21805252insA , CM000674.2:g.21805251_21805252insA	GRCh38
NC_000012.11:g.21958185_21958186insA , CM000674.1:g.21958185_21958186insA	GRCh37
NC_000012.10:g.21849452_21849453insA	NCBI36
NG_012819.1:g.136443_136444insT , LRG_377:g.136443_136444insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4572_4573insT	ENSP00000261201.4:p.Val1525CysfsTer4
ENST00000682426.1:n.2089+746_2089+747insT
ENST00000682879.1:c.*3610+746_*3610+747insT	ENSP00000508210.1:n.*3610+746_*3610+747insT
ENST00000683105.1:c.*536+746_*536+747insT	ENSP00000506801.1:n.*536+746_*536+747insT
ENST00000683676.1:c.4212-6114_4212-6113insT	ENSP00000508167.1:n.4212-6114_4212-6113insT
ENST00000683695.1:n.977+746_977+747insT
ENST00000684084.1:c.4461+746_4461+747insT	ENSP00000507859.1:n.4461+746_4461+747insT
ENST00000261200.9:c.4512+746_4512+747insT MANE Select	ENSP00000261200.4:n.4512+746_4512+747insT
ENST00000261201.9:c.4572_4573insT	ENSP00000261201.4:p.Val1525CysfsTer4
ENST00000261200.8:c.4512+746_4512+747insT	ENSP00000261200.4:n.4512+746_4512+747insT
ENST00000261201.8:c.4572_4573insT	ENSP00000261201.4:p.Val1525CysfsTer4
ENST00000544039.5:c.3453_3454insT	ENSP00000440521.1:p.Val1152CysfsTer4
NM_005691.3:c.4572_4573insT	NP_005682.2:p.Val1525CysfsTer4
NM_020297.3:c.4512+746_4512+747insT	NP_064693.2:n.4512+746_4512+747insT
XM_005253284.2:c.4512+746_4512+747insT	XP_005253341.1:n.4512+746_4512+747insT
XM_005253286.2:c.4512+746_4512+747insT	XP_005253343.1:n.4512+746_4512+747insT
XM_005253287.3:c.4572_4573insT	XP_005253344.1:p.Val1525CysfsTer4
XM_005253288.2:c.4512+746_4512+747insT	XP_005253345.1:n.4512+746_4512+747insT
XM_005253289.2:c.4473+746_4473+747insT	XP_005253346.1:n.4473+746_4473+747insT
XM_005253290.2:c.4371+746_4371+747insT	XP_005253347.1:n.4371+746_4371+747insT
XM_006719025.2:c.4533_4534insT	XP_006719088.1:p.Val1512CysfsTer4
XM_011520545.1:c.4512+746_4512+747insT	XP_011518847.1:n.4512+746_4512+747insT
XR_931420.1:n.632-21959_632-21958insA
XR_931421.1:n.632-21959_632-21958insA
XR_931422.1:n.306-21959_306-21958insA
XM_005253284.4:c.4512+746_4512+747insT	XP_005253341.1:n.4512+746_4512+747insT
XM_005253286.4:c.4512+746_4512+747insT	XP_005253343.1:n.4512+746_4512+747insT
XM_005253287.5:c.4572_4573insT	XP_005253344.1:p.Val1525CysfsTer4
XM_005253288.4:c.4512+746_4512+747insT	XP_005253345.1:n.4512+746_4512+747insT
XM_005253289.4:c.4473+746_4473+747insT	XP_005253346.1:n.4473+746_4473+747insT
XM_005253290.4:c.4371+746_4371+747insT	XP_005253347.1:n.4371+746_4371+747insT
XM_006719025.4:c.4533_4534insT	XP_006719088.1:p.Val1512CysfsTer4
XM_011520545.3:c.4512+746_4512+747insT	XP_011518847.1:n.4512+746_4512+747insT
XR_931420.3:n.632-21959_632-21958insA
XR_931422.2:n.318-21959_318-21958insA
NM_001377273.1:c.4512+746_4512+747insT	NP_001364202.1:n.4512+746_4512+747insT
NM_001377274.1:c.3645+746_3645+747insT	NP_001364203.1:n.3645+746_3645+747insT
NM_005691.4:c.4572_4573insT	NP_005682.2:p.Val1525CysfsTer4
NM_020297.4:c.4512+746_4512+747insT MANE Select	NP_064693.2:n.4512+746_4512+747insT