Canonical Allele Identifier: CA2580615150

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 2571964
• ClinVar RCV Id: RCV003313673

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21844779_21844790delinsGG , CM000674.2:g.21844779_21844790delinsGG	GRCh38
NC_000012.11:g.21997713_21997724delinsGG , CM000674.1:g.21997713_21997724delinsGG	GRCh37
NC_000012.10:g.21888980_21888991delinsGG	NCBI36
NG_012819.1:g.96905_96916delinsCC , LRG_377:g.96905_96916delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.3222_3233delinsCC	ENSP00000261201.4:p.Lys1075LeufsTer4
ENST00000682068.1:c.3222_3233delinsCC	ENSP00000507226.1:p.Lys1075LeufsTer4
ENST00000682426.1:n.799_810delinsCC
ENST00000682879.1:c.*2320_*2331delinsCC	ENSP00000508210.1:n.*2320_*2331delinsCC
ENST00000683105.1:c.3222_3233delinsCC	ENSP00000506801.1:p.Lys1075LeufsTer4
ENST00000683676.1:c.3222_3233delinsCC	ENSP00000508167.1:p.Lys1075LeufsTer4
ENST00000683811.1:n.2723_2734delinsCC
ENST00000684084.1:c.3171_3182delinsCC	ENSP00000507859.1:p.Lys1058LeufsTer4
ENST00000261200.9:c.3222_3233delinsCC MANE Select	ENSP00000261200.4:p.Lys1075LeufsTer4
ENST00000261201.9:c.3222_3233delinsCC	ENSP00000261201.4:p.Lys1075LeufsTer4
ENST00000261200.8:c.3222_3233delinsCC	ENSP00000261200.4:p.Lys1075LeufsTer4
ENST00000261201.8:c.3222_3233delinsCC	ENSP00000261201.4:p.Lys1075LeufsTer4
ENST00000544039.5:c.2103_2114delinsCC	ENSP00000440521.1:p.Lys702LeufsTer4
NM_005691.3:c.3222_3233delinsCC	NP_005682.2:p.Lys1075LeufsTer4
NM_020297.3:c.3222_3233delinsCC	NP_064693.2:p.Lys1075LeufsTer4
XM_005253284.2:c.3222_3233delinsCC	XP_005253341.1:p.Lys1075LeufsTer4
XM_005253286.2:c.3222_3233delinsCC	XP_005253343.1:p.Lys1075LeufsTer4
XM_005253287.3:c.3222_3233delinsCC	XP_005253344.1:p.Lys1075LeufsTer4
XM_005253288.2:c.3222_3233delinsCC	XP_005253345.1:p.Lys1075LeufsTer4
XM_005253289.2:c.3183_3194delinsCC	XP_005253346.1:p.Lys1062LeufsTer4
XM_005253290.2:c.3081_3092delinsCC	XP_005253347.1:p.Lys1028LeufsTer4
XM_006719025.2:c.3183_3194delinsCC	XP_006719088.1:p.Lys1062LeufsTer4
XM_011520545.1:c.3222_3233delinsCC	XP_011518847.1:p.Lys1075LeufsTer4
XM_005253284.4:c.3222_3233delinsCC	XP_005253341.1:p.Lys1075LeufsTer4
XM_005253286.4:c.3222_3233delinsCC	XP_005253343.1:p.Lys1075LeufsTer4
XM_005253287.5:c.3222_3233delinsCC	XP_005253344.1:p.Lys1075LeufsTer4
XM_005253288.4:c.3222_3233delinsCC	XP_005253345.1:p.Lys1075LeufsTer4
XM_005253289.4:c.3183_3194delinsCC	XP_005253346.1:p.Lys1062LeufsTer4
XM_005253290.4:c.3081_3092delinsCC	XP_005253347.1:p.Lys1028LeufsTer4
XM_006719025.4:c.3183_3194delinsCC	XP_006719088.1:p.Lys1062LeufsTer4
XM_011520545.3:c.3222_3233delinsCC	XP_011518847.1:p.Lys1075LeufsTer4
NM_001377273.1:c.3222_3233delinsCC	NP_001364202.1:p.Lys1075LeufsTer4
NM_001377274.1:c.2355_2366delinsCC	NP_001364203.1:p.Lys786LeufsTer4
NM_005691.4:c.3222_3233delinsCC	NP_005682.2:p.Lys1075LeufsTer4
NM_020297.4:c.3222_3233delinsCC MANE Select	NP_064693.2:p.Lys1075LeufsTer4