Canonical Allele Identifier: CA2617921386

Gene: ABCC9

Linked Data

• gnomAD v4: 12-21913060-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21913066dup , CM000674.2:g.21913066dup	GRCh38
NC_000012.11:g.22066000dup , CM000674.1:g.22066000dup	GRCh37
NC_000012.10:g.21957267dup	NCBI36
NG_012819.1:g.28634dup , LRG_377:g.28634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.822dup	ENSP00000261201.4:p.Val275SerfsTer26
ENST00000682068.1:c.822dup	ENSP00000507226.1:p.Val275SerfsTer26
ENST00000682789.1:n.1073dup
ENST00000682879.1:c.412dup	ENSP00000508210.1:p.Ser138LysfsTer?
ENST00000683105.1:c.822dup	ENSP00000506801.1:p.Val275SerfsTer26
ENST00000683676.1:c.822dup	ENSP00000508167.1:p.Val275SerfsTer26
ENST00000684084.1:c.822dup	ENSP00000507859.1:p.Val275SerfsTer26
ENST00000684543.1:n.1167dup
ENST00000261200.9:c.822dup MANE Select	ENSP00000261200.4:p.Val275SerfsTer26
ENST00000261201.9:c.822dup	ENSP00000261201.4:p.Val275SerfsTer26
ENST00000261200.8:c.822dup	ENSP00000261200.4:p.Val275SerfsTer26
ENST00000261201.8:c.822dup	ENSP00000261201.4:p.Val275SerfsTer26
NM_005691.3:c.822dup	NP_005682.2:p.Val275SerfsTer26
NM_020297.3:c.822dup	NP_064693.2:p.Val275SerfsTer26
XM_005253284.2:c.822dup	XP_005253341.1:p.Val275SerfsTer26
XM_005253286.2:c.822dup	XP_005253343.1:p.Val275SerfsTer26
XM_005253287.3:c.822dup	XP_005253344.1:p.Val275SerfsTer26
XM_005253288.2:c.822dup	XP_005253345.1:p.Val275SerfsTer26
XM_005253289.2:c.822dup	XP_005253346.1:p.Val275SerfsTer26
XM_005253290.2:c.822dup	XP_005253347.1:p.Val275SerfsTer26
XM_006719025.2:c.822dup	XP_006719088.1:p.Val275SerfsTer26
XM_011520545.1:c.822dup	XP_011518847.1:p.Val275SerfsTer26
XM_005253284.4:c.822dup	XP_005253341.1:p.Val275SerfsTer26
XM_005253286.4:c.822dup	XP_005253343.1:p.Val275SerfsTer26
XM_005253287.5:c.822dup	XP_005253344.1:p.Val275SerfsTer26
XM_005253288.4:c.822dup	XP_005253345.1:p.Val275SerfsTer26
XM_005253289.4:c.822dup	XP_005253346.1:p.Val275SerfsTer26
XM_005253290.4:c.822dup	XP_005253347.1:p.Val275SerfsTer26
XM_006719025.4:c.822dup	XP_006719088.1:p.Val275SerfsTer26
XM_011520545.3:c.822dup	XP_011518847.1:p.Val275SerfsTer26
NM_001377273.1:c.822dup	NP_001364202.1:p.Val275SerfsTer26
NM_001377274.1:c.-43dup	NP_001364203.1:n.-43dup
NM_005691.4:c.822dup	NP_005682.2:p.Val275SerfsTer26
NM_020297.4:c.822dup MANE Select	NP_064693.2:p.Val275SerfsTer26