Canonical Allele Identifier: CA2580085257

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 1741831
• ClinVar RCV Id: RCV002342398 ; RCV002473369 ; RCV003094784

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805220_21805221delinsTT , CM000674.2:g.21805220_21805221delinsTT	GRCh38
NC_000012.11:g.21958154_21958155delinsTT , CM000674.1:g.21958154_21958155delinsTT	GRCh37
NC_000012.10:g.21849421_21849422delinsTT	NCBI36
NG_012819.1:g.136474_136475delinsAA , LRG_377:g.136474_136475delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4603_4604delinsAA	ENSP00000261201.4:p.Ala1535Asn
ENST00000682426.1:n.2089+777_2089+778delinsAA
ENST00000682879.1:c.*3610+777_*3610+778delinsAA	ENSP00000508210.1:n.*3610+777_*3610+778delinsAA
ENST00000683105.1:c.*536+777_*536+778delinsAA	ENSP00000506801.1:n.*536+777_*536+778delinsAA
ENST00000683676.1:c.4212-6083_4212-6082delinsAA	ENSP00000508167.1:n.4212-6083_4212-6082delinsAA
ENST00000683695.1:n.977+777_977+778delinsAA
ENST00000684084.1:c.4461+777_4461+778delinsAA	ENSP00000507859.1:n.4461+777_4461+778delinsAA
ENST00000261200.9:c.4512+777_4512+778delinsAA MANE Select	ENSP00000261200.4:n.4512+777_4512+778delinsAA
ENST00000261201.9:c.4603_4604delinsAA	ENSP00000261201.4:p.Ala1535Asn
ENST00000261200.8:c.4512+777_4512+778delinsAA	ENSP00000261200.4:n.4512+777_4512+778delinsAA
ENST00000261201.8:c.4603_4604delinsAA	ENSP00000261201.4:p.Ala1535Asn
ENST00000544039.5:c.3484_3485delinsAA	ENSP00000440521.1:p.Ala1162Asn
NM_005691.3:c.4603_4604delinsAA	NP_005682.2:p.Ala1535Asn
NM_020297.3:c.4512+777_4512+778delinsAA	NP_064693.2:n.4512+777_4512+778delinsAA
XM_005253284.2:c.4512+777_4512+778delinsAA	XP_005253341.1:n.4512+777_4512+778delinsAA
XM_005253286.2:c.4512+777_4512+778delinsAA	XP_005253343.1:n.4512+777_4512+778delinsAA
XM_005253287.3:c.4603_4604delinsAA	XP_005253344.1:p.Ala1535Asn
XM_005253288.2:c.4512+777_4512+778delinsAA	XP_005253345.1:n.4512+777_4512+778delinsAA
XM_005253289.2:c.4473+777_4473+778delinsAA	XP_005253346.1:n.4473+777_4473+778delinsAA
XM_005253290.2:c.4371+777_4371+778delinsAA	XP_005253347.1:n.4371+777_4371+778delinsAA
XM_006719025.2:c.4564_4565delinsAA	XP_006719088.1:p.Ala1522Asn
XM_011520545.1:c.4512+777_4512+778delinsAA	XP_011518847.1:n.4512+777_4512+778delinsAA
XR_931420.1:n.632-21990_632-21989delinsTT
XR_931421.1:n.632-21990_632-21989delinsTT
XR_931422.1:n.306-21990_306-21989delinsTT
XM_005253284.4:c.4512+777_4512+778delinsAA	XP_005253341.1:n.4512+777_4512+778delinsAA
XM_005253286.4:c.4512+777_4512+778delinsAA	XP_005253343.1:n.4512+777_4512+778delinsAA
XM_005253287.5:c.4603_4604delinsAA	XP_005253344.1:p.Ala1535Asn
XM_005253288.4:c.4512+777_4512+778delinsAA	XP_005253345.1:n.4512+777_4512+778delinsAA
XM_005253289.4:c.4473+777_4473+778delinsAA	XP_005253346.1:n.4473+777_4473+778delinsAA
XM_005253290.4:c.4371+777_4371+778delinsAA	XP_005253347.1:n.4371+777_4371+778delinsAA
XM_006719025.4:c.4564_4565delinsAA	XP_006719088.1:p.Ala1522Asn
XM_011520545.3:c.4512+777_4512+778delinsAA	XP_011518847.1:n.4512+777_4512+778delinsAA
XR_931420.3:n.632-21990_632-21989delinsTT
XR_931422.2:n.318-21990_318-21989delinsTT
NM_001377273.1:c.4512+777_4512+778delinsAA	NP_001364202.1:n.4512+777_4512+778delinsAA
NM_001377274.1:c.3645+777_3645+778delinsAA	NP_001364203.1:n.3645+777_3645+778delinsAA
NM_005691.4:c.4603_4604delinsAA	NP_005682.2:p.Ala1535Asn
NM_020297.4:c.4512+777_4512+778delinsAA MANE Select	NP_064693.2:n.4512+777_4512+778delinsAA