Canonical Allele Identifier: CA2021290741

Gene: ABCC9

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805296_21805307delinsTAGAAGAGACAC , CM000674.2:g.21805296_21805307delinsTAGAAGAGACAC	GRCh38
NC_000012.11:g.21958230_21958241delinsTAGAAGAGACAC , CM000674.1:g.21958230_21958241delinsTAGAAGAGACAC	GRCh37
NC_000012.10:g.21849497_21849508delinsTAGAAGAGACAC	NCBI36
NG_012819.1:g.136388_136399delinsGTGTCTCTTCTA , LRG_377:g.136388_136399delinsGTGTCTCTTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4517_4528delinsGTGTCTCTTCTA	ENSP00000261201.4:p.Arg1506=
ENST00000682426.1:n.2089+691_2089+702delinsGTGTCTCTTCTA
ENST00000682879.1:c.*3610+691_*3610+702delinsGTGTCTCTTCTA	ENSP00000508210.1:n.*3610+691_*3610+702delinsGTGTCTCTTCTA
ENST00000683105.1:c.*536+691_*536+702delinsGTGTCTCTTCTA	ENSP00000506801.1:n.*536+691_*536+702delinsGTGTCTCTTCTA
ENST00000683676.1:c.4212-6169_4212-6158delinsGTGTCTCTTCTA	ENSP00000508167.1:n.4212-6169_4212-6158delinsGTGTCTCTTCTA
ENST00000683695.1:n.977+691_977+702delinsGTGTCTCTTCTA
ENST00000684084.1:c.4461+691_4461+702delinsGTGTCTCTTCTA	ENSP00000507859.1:n.4461+691_4461+702delinsGTGTCTCTTCTA
ENST00000261200.9:c.4512+691_4512+702delinsGTGTCTCTTCTA MANE Select	ENSP00000261200.4:n.4512+691_4512+702delinsGTGTCTCTTCTA
ENST00000261201.9:c.4517_4528delinsGTGTCTCTTCTA	ENSP00000261201.4:p.Arg1506=
ENST00000261200.8:c.4512+691_4512+702delinsGTGTCTCTTCTA	ENSP00000261200.4:n.4512+691_4512+702delinsGTGTCTCTTCTA
ENST00000261201.8:c.4517_4528delinsGTGTCTCTTCTA	ENSP00000261201.4:p.Arg1506=
ENST00000544039.5:c.3398_3409delinsGTGTCTCTTCTA	ENSP00000440521.1:p.Arg1133=
NM_005691.3:c.4517_4528delinsGTGTCTCTTCTA	NP_005682.2:p.Arg1506=
NM_020297.3:c.4512+691_4512+702delinsGTGTCTCTTCTA	NP_064693.2:n.4512+691_4512+702delinsGTGTCTCTTCTA
XM_005253284.2:c.4512+691_4512+702delinsGTGTCTCTTCTA	XP_005253341.1:n.4512+691_4512+702delinsGTGTCTCTTCTA
XM_005253286.2:c.4512+691_4512+702delinsGTGTCTCTTCTA	XP_005253343.1:n.4512+691_4512+702delinsGTGTCTCTTCTA
XM_005253287.3:c.4517_4528delinsGTGTCTCTTCTA	XP_005253344.1:p.Arg1506=
XM_005253288.2:c.4512+691_4512+702delinsGTGTCTCTTCTA	XP_005253345.1:n.4512+691_4512+702delinsGTGTCTCTTCTA
XM_005253289.2:c.4473+691_4473+702delinsGTGTCTCTTCTA	XP_005253346.1:n.4473+691_4473+702delinsGTGTCTCTTCTA
XM_005253290.2:c.4371+691_4371+702delinsGTGTCTCTTCTA	XP_005253347.1:n.4371+691_4371+702delinsGTGTCTCTTCTA
XM_006719025.2:c.4478_4489delinsGTGTCTCTTCTA	XP_006719088.1:p.Arg1493=
XM_011520545.1:c.4512+691_4512+702delinsGTGTCTCTTCTA	XP_011518847.1:n.4512+691_4512+702delinsGTGTCTCTTCTA
XR_931420.1:n.632-21914_632-21903delinsTAGAAGAGACAC
XR_931421.1:n.632-21914_632-21903delinsTAGAAGAGACAC
XR_931422.1:n.306-21914_306-21903delinsTAGAAGAGACAC
XM_005253284.4:c.4512+691_4512+702delinsGTGTCTCTTCTA	XP_005253341.1:n.4512+691_4512+702delinsGTGTCTCTTCTA
XM_005253286.4:c.4512+691_4512+702delinsGTGTCTCTTCTA	XP_005253343.1:n.4512+691_4512+702delinsGTGTCTCTTCTA
XM_005253287.5:c.4517_4528delinsGTGTCTCTTCTA	XP_005253344.1:p.Arg1506=
XM_005253288.4:c.4512+691_4512+702delinsGTGTCTCTTCTA	XP_005253345.1:n.4512+691_4512+702delinsGTGTCTCTTCTA
XM_005253289.4:c.4473+691_4473+702delinsGTGTCTCTTCTA	XP_005253346.1:n.4473+691_4473+702delinsGTGTCTCTTCTA
XM_005253290.4:c.4371+691_4371+702delinsGTGTCTCTTCTA	XP_005253347.1:n.4371+691_4371+702delinsGTGTCTCTTCTA
XM_006719025.4:c.4478_4489delinsGTGTCTCTTCTA	XP_006719088.1:p.Arg1493=
XM_011520545.3:c.4512+691_4512+702delinsGTGTCTCTTCTA	XP_011518847.1:n.4512+691_4512+702delinsGTGTCTCTTCTA
XR_931420.3:n.632-21914_632-21903delinsTAGAAGAGACAC
XR_931422.2:n.318-21914_318-21903delinsTAGAAGAGACAC
NM_001377273.1:c.4512+691_4512+702delinsGTGTCTCTTCTA	NP_001364202.1:n.4512+691_4512+702delinsGTGTCTCTTCTA
NM_001377274.1:c.3645+691_3645+702delinsGTGTCTCTTCTA	NP_001364203.1:n.3645+691_3645+702delinsGTGTCTCTTCTA
NM_005691.4:c.4517_4528delinsGTGTCTCTTCTA	NP_005682.2:p.Arg1506=
NM_020297.4:c.4512+691_4512+702delinsGTGTCTCTTCTA MANE Select	NP_064693.2:n.4512+691_4512+702delinsGTGTCTCTTCTA