Canonical Allele Identifier: CA2500206327

Gene: ABCC9

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805214_21805215insCCGG , CM000674.2:g.21805214_21805215insCCGG	GRCh38
NC_000012.11:g.21958148_21958149insCCGG , CM000674.1:g.21958148_21958149insCCGG	GRCh37
NC_000012.10:g.21849415_21849416insCCGG	NCBI36
NG_012819.1:g.136480_136481insCCGG , LRG_377:g.136480_136481insCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4609_4610insCCGG	ENSP00000261201.4:p.Lys1537ThrfsTer?
ENST00000682426.1:n.2089+783_2089+784insCCGG
ENST00000682879.1:c.*3610+783_*3610+784insCCGG	ENSP00000508210.1:n.*3610+783_*3610+784insCCGG
ENST00000683105.1:c.*536+783_*536+784insCCGG	ENSP00000506801.1:n.*536+783_*536+784insCCGG
ENST00000683676.1:c.4212-6077_4212-6076insCCGG	ENSP00000508167.1:n.4212-6077_4212-6076insCCGG
ENST00000683695.1:n.977+783_977+784insCCGG
ENST00000684084.1:c.4461+783_4461+784insCCGG	ENSP00000507859.1:n.4461+783_4461+784insCCGG
ENST00000261200.9:c.4512+783_4512+784insCCGG MANE Select	ENSP00000261200.4:n.4512+783_4512+784insCCGG
ENST00000261201.9:c.4609_4610insCCGG	ENSP00000261201.4:p.Lys1537ThrfsTer?
ENST00000261200.8:c.4512+783_4512+784insCCGG	ENSP00000261200.4:n.4512+783_4512+784insCCGG
ENST00000261201.8:c.4609_4610insCCGG	ENSP00000261201.4:p.Lys1537ThrfsTer?
ENST00000544039.5:c.3490_3491insCCGG	ENSP00000440521.1:p.Lys1164ThrfsTer?
NM_005691.3:c.4609_4610insCCGG	NP_005682.2:p.Lys1537ThrfsTer?
NM_020297.3:c.4512+783_4512+784insCCGG	NP_064693.2:n.4512+783_4512+784insCCGG
XM_005253284.2:c.4512+783_4512+784insCCGG	XP_005253341.1:n.4512+783_4512+784insCCGG
XM_005253286.2:c.4512+783_4512+784insCCGG	XP_005253343.1:n.4512+783_4512+784insCCGG
XM_005253287.3:c.4609_4610insCCGG	XP_005253344.1:p.Lys1537ThrfsTer?
XM_005253288.2:c.4512+783_4512+784insCCGG	XP_005253345.1:n.4512+783_4512+784insCCGG
XM_005253289.2:c.4473+783_4473+784insCCGG	XP_005253346.1:n.4473+783_4473+784insCCGG
XM_005253290.2:c.4371+783_4371+784insCCGG	XP_005253347.1:n.4371+783_4371+784insCCGG
XM_006719025.2:c.4570_4571insCCGG	XP_006719088.1:p.Lys1524ThrfsTer?
XM_011520545.1:c.4512+783_4512+784insCCGG	XP_011518847.1:n.4512+783_4512+784insCCGG
XR_931420.1:n.632-21996_632-21995insCCGG
XR_931421.1:n.632-21996_632-21995insCCGG
XR_931422.1:n.306-21996_306-21995insCCGG
XM_005253284.4:c.4512+783_4512+784insCCGG	XP_005253341.1:n.4512+783_4512+784insCCGG
XM_005253286.4:c.4512+783_4512+784insCCGG	XP_005253343.1:n.4512+783_4512+784insCCGG
XM_005253287.5:c.4609_4610insCCGG	XP_005253344.1:p.Lys1537ThrfsTer?
XM_005253288.4:c.4512+783_4512+784insCCGG	XP_005253345.1:n.4512+783_4512+784insCCGG
XM_005253289.4:c.4473+783_4473+784insCCGG	XP_005253346.1:n.4473+783_4473+784insCCGG
XM_005253290.4:c.4371+783_4371+784insCCGG	XP_005253347.1:n.4371+783_4371+784insCCGG
XM_006719025.4:c.4570_4571insCCGG	XP_006719088.1:p.Lys1524ThrfsTer?
XM_011520545.3:c.4512+783_4512+784insCCGG	XP_011518847.1:n.4512+783_4512+784insCCGG
XR_931420.3:n.632-21996_632-21995insCCGG
XR_931422.2:n.318-21996_318-21995insCCGG
NM_001377273.1:c.4512+783_4512+784insCCGG	NP_001364202.1:n.4512+783_4512+784insCCGG
NM_001377274.1:c.3645+783_3645+784insCCGG	NP_001364203.1:n.3645+783_3645+784insCCGG
NM_005691.4:c.4609_4610insCCGG	NP_005682.2:p.Lys1537ThrfsTer?
NM_020297.4:c.4512+783_4512+784insCCGG MANE Select	NP_064693.2:n.4512+783_4512+784insCCGG