Canonical Allele Identifier: CA2573148552

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 1503002
• ClinVar RCV Id: RCV002022614
• dbSNP Id: rs2137385180

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21844504_21844505delinsTT , CM000674.2:g.21844504_21844505delinsTT	GRCh38
NC_000012.11:g.21997438_21997439delinsTT , CM000674.1:g.21997438_21997439delinsTT	GRCh37
NC_000012.10:g.21888705_21888706delinsTT	NCBI36
NG_012819.1:g.97190_97191delinsAA , LRG_377:g.97190_97191delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.3293_3294delinsAA	ENSP00000261201.4:p.Ala1098Glu
ENST00000682068.1:c.3293_3294delinsAA	ENSP00000507226.1:p.Ala1098Glu
ENST00000682426.1:n.870_871delinsAA
ENST00000682879.1:c.*2391_*2392delinsAA	ENSP00000508210.1:n.*2391_*2392delinsAA
ENST00000683105.1:c.3293_3294delinsAA	ENSP00000506801.1:p.Ala1098Glu
ENST00000683676.1:c.3293_3294delinsAA	ENSP00000508167.1:p.Ala1098Glu
ENST00000683811.1:n.2794_2795delinsAA
ENST00000684084.1:c.3242_3243delinsAA	ENSP00000507859.1:p.Ala1081Glu
ENST00000261200.9:c.3293_3294delinsAA MANE Select	ENSP00000261200.4:p.Ala1098Glu
ENST00000261201.9:c.3293_3294delinsAA	ENSP00000261201.4:p.Ala1098Glu
ENST00000261200.8:c.3293_3294delinsAA	ENSP00000261200.4:p.Ala1098Glu
ENST00000261201.8:c.3293_3294delinsAA	ENSP00000261201.4:p.Ala1098Glu
ENST00000544039.5:c.2174_2175delinsAA	ENSP00000440521.1:p.Ala725Glu
NM_005691.3:c.3293_3294delinsAA	NP_005682.2:p.Ala1098Glu
NM_020297.3:c.3293_3294delinsAA	NP_064693.2:p.Ala1098Glu
XM_005253284.2:c.3293_3294delinsAA	XP_005253341.1:p.Ala1098Glu
XM_005253286.2:c.3293_3294delinsAA	XP_005253343.1:p.Ala1098Glu
XM_005253287.3:c.3293_3294delinsAA	XP_005253344.1:p.Ala1098Glu
XM_005253288.2:c.3293_3294delinsAA	XP_005253345.1:p.Ala1098Glu
XM_005253289.2:c.3254_3255delinsAA	XP_005253346.1:p.Ala1085Glu
XM_005253290.2:c.3152_3153delinsAA	XP_005253347.1:p.Ala1051Glu
XM_006719025.2:c.3254_3255delinsAA	XP_006719088.1:p.Ala1085Glu
XM_011520545.1:c.3293_3294delinsAA	XP_011518847.1:p.Ala1098Glu
XM_005253284.4:c.3293_3294delinsAA	XP_005253341.1:p.Ala1098Glu
XM_005253286.4:c.3293_3294delinsAA	XP_005253343.1:p.Ala1098Glu
XM_005253287.5:c.3293_3294delinsAA	XP_005253344.1:p.Ala1098Glu
XM_005253288.4:c.3293_3294delinsAA	XP_005253345.1:p.Ala1098Glu
XM_005253289.4:c.3254_3255delinsAA	XP_005253346.1:p.Ala1085Glu
XM_005253290.4:c.3152_3153delinsAA	XP_005253347.1:p.Ala1051Glu
XM_006719025.4:c.3254_3255delinsAA	XP_006719088.1:p.Ala1085Glu
XM_011520545.3:c.3293_3294delinsAA	XP_011518847.1:p.Ala1098Glu
NM_001377273.1:c.3293_3294delinsAA	NP_001364202.1:p.Ala1098Glu
NM_001377274.1:c.2426_2427delinsAA	NP_001364203.1:p.Ala809Glu
NM_005691.4:c.3293_3294delinsAA	NP_005682.2:p.Ala1098Glu
NM_020297.4:c.3293_3294delinsAA MANE Select	NP_064693.2:p.Ala1098Glu