Canonical Allele Identifier: CA6481800

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 918160
• ClinVar RCV Id: RCV001175594 ; RCV002068136
• dbSNP Id: rs199947733
• ExAC: 12:22066017 G / GA
• gnomAD v2: 12-22066017-G-GA
• gnomAD v3: 12-21913083-G-GA
• gnomAD v4: 12-21913083-G-GA
• MyVariant Identifiers: chr12:g.22066018_22066019insA (hg19) ; chr12:g.22066017_22066018insA (hg19) ; chr12:g.21913084_21913085insA (hg38) ; chr12:g.21913083_21913084insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21913093dup , CM000674.2:g.21913093dup	GRCh38
NC_000012.11:g.22066027dup , CM000674.1:g.22066027dup	GRCh37
NC_000012.10:g.21957294dup	NCBI36
NG_012819.1:g.28611dup , LRG_377:g.28611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.817-18dup	ENSP00000261201.4:n.817-18dup
ENST00000682068.1:c.817-18dup	ENSP00000507226.1:n.817-18dup
ENST00000682789.1:n.1068-18dup
ENST00000682879.1:c.407-18dup	ENSP00000508210.1:n.407-18dup
ENST00000683105.1:c.817-18dup	ENSP00000506801.1:n.817-18dup
ENST00000683676.1:c.817-18dup	ENSP00000508167.1:n.817-18dup
ENST00000684084.1:c.817-18dup	ENSP00000507859.1:n.817-18dup
ENST00000684543.1:n.1162-18dup
ENST00000261200.9:c.817-18dup MANE Select	ENSP00000261200.4:n.817-18dup
ENST00000261201.9:c.817-18dup	ENSP00000261201.4:n.817-18dup
ENST00000261200.8:c.817-18dup	ENSP00000261200.4:n.817-18dup
ENST00000261201.8:c.817-18dup	ENSP00000261201.4:n.817-18dup
NM_005691.3:c.817-18dup	NP_005682.2:n.817-18dup
NM_020297.3:c.817-18dup	NP_064693.2:n.817-18dup
XM_005253284.2:c.817-18dup	XP_005253341.1:n.817-18dup
XM_005253286.2:c.817-18dup	XP_005253343.1:n.817-18dup
XM_005253287.3:c.817-18dup	XP_005253344.1:n.817-18dup
XM_005253288.2:c.817-18dup	XP_005253345.1:n.817-18dup
XM_005253289.2:c.817-18dup	XP_005253346.1:n.817-18dup
XM_005253290.2:c.817-18dup	XP_005253347.1:n.817-18dup
XM_006719025.2:c.817-18dup	XP_006719088.1:n.817-18dup
XM_011520545.1:c.817-18dup	XP_011518847.1:n.817-18dup
XM_005253284.4:c.817-18dup	XP_005253341.1:n.817-18dup
XM_005253286.4:c.817-18dup	XP_005253343.1:n.817-18dup
XM_005253287.5:c.817-18dup	XP_005253344.1:n.817-18dup
XM_005253288.4:c.817-18dup	XP_005253345.1:n.817-18dup
XM_005253289.4:c.817-18dup	XP_005253346.1:n.817-18dup
XM_005253290.4:c.817-18dup	XP_005253347.1:n.817-18dup
XM_006719025.4:c.817-18dup	XP_006719088.1:n.817-18dup
XM_011520545.3:c.817-18dup	XP_011518847.1:n.817-18dup
NM_001377273.1:c.817-18dup	NP_001364202.1:n.817-18dup
NM_001377274.1:c.-48-18dup	NP_001364203.1:n.-48-18dup
NM_005691.4:c.817-18dup	NP_005682.2:n.817-18dup
NM_020297.4:c.817-18dup MANE Select	NP_064693.2:n.817-18dup