Canonical Allele Identifier: CA2021290629

Gene: ABCC9

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805251_21805253delinsCTA , CM000674.2:g.21805251_21805253delinsCTA	GRCh38
NC_000012.11:g.21958185_21958187delinsCTA , CM000674.1:g.21958185_21958187delinsCTA	GRCh37
NC_000012.10:g.21849452_21849454delinsCTA	NCBI36
NG_012819.1:g.136442_136444delinsTAG , LRG_377:g.136442_136444delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4571_4573delinsTAG	ENSP00000261201.4:p.Leu1524=
ENST00000682426.1:n.2089+745_2089+747delinsTAG
ENST00000682879.1:c.*3610+745_*3610+747delinsTAG	ENSP00000508210.1:n.*3610+745_*3610+747delinsTAG
ENST00000683105.1:c.*536+745_*536+747delinsTAG	ENSP00000506801.1:n.*536+745_*536+747delinsTAG
ENST00000683676.1:c.4212-6115_4212-6113delinsTAG	ENSP00000508167.1:n.4212-6115_4212-6113delinsTAG
ENST00000683695.1:n.977+745_977+747delinsTAG
ENST00000684084.1:c.4461+745_4461+747delinsTAG	ENSP00000507859.1:n.4461+745_4461+747delinsTAG
ENST00000261200.9:c.4512+745_4512+747delinsTAG MANE Select	ENSP00000261200.4:n.4512+745_4512+747delinsTAG
ENST00000261201.9:c.4571_4573delinsTAG	ENSP00000261201.4:p.Leu1524=
ENST00000261200.8:c.4512+745_4512+747delinsTAG	ENSP00000261200.4:n.4512+745_4512+747delinsTAG
ENST00000261201.8:c.4571_4573delinsTAG	ENSP00000261201.4:p.Leu1524=
ENST00000544039.5:c.3452_3454delinsTAG	ENSP00000440521.1:p.Leu1151=
NM_005691.3:c.4571_4573delinsTAG	NP_005682.2:p.Leu1524=
NM_020297.3:c.4512+745_4512+747delinsTAG	NP_064693.2:n.4512+745_4512+747delinsTAG
XM_005253284.2:c.4512+745_4512+747delinsTAG	XP_005253341.1:n.4512+745_4512+747delinsTAG
XM_005253286.2:c.4512+745_4512+747delinsTAG	XP_005253343.1:n.4512+745_4512+747delinsTAG
XM_005253287.3:c.4571_4573delinsTAG	XP_005253344.1:p.Leu1524=
XM_005253288.2:c.4512+745_4512+747delinsTAG	XP_005253345.1:n.4512+745_4512+747delinsTAG
XM_005253289.2:c.4473+745_4473+747delinsTAG	XP_005253346.1:n.4473+745_4473+747delinsTAG
XM_005253290.2:c.4371+745_4371+747delinsTAG	XP_005253347.1:n.4371+745_4371+747delinsTAG
XM_006719025.2:c.4532_4534delinsTAG	XP_006719088.1:p.Leu1511=
XM_011520545.1:c.4512+745_4512+747delinsTAG	XP_011518847.1:n.4512+745_4512+747delinsTAG
XR_931420.1:n.632-21959_632-21957delinsCTA
XR_931421.1:n.632-21959_632-21957delinsCTA
XR_931422.1:n.306-21959_306-21957delinsCTA
XM_005253284.4:c.4512+745_4512+747delinsTAG	XP_005253341.1:n.4512+745_4512+747delinsTAG
XM_005253286.4:c.4512+745_4512+747delinsTAG	XP_005253343.1:n.4512+745_4512+747delinsTAG
XM_005253287.5:c.4571_4573delinsTAG	XP_005253344.1:p.Leu1524=
XM_005253288.4:c.4512+745_4512+747delinsTAG	XP_005253345.1:n.4512+745_4512+747delinsTAG
XM_005253289.4:c.4473+745_4473+747delinsTAG	XP_005253346.1:n.4473+745_4473+747delinsTAG
XM_005253290.4:c.4371+745_4371+747delinsTAG	XP_005253347.1:n.4371+745_4371+747delinsTAG
XM_006719025.4:c.4532_4534delinsTAG	XP_006719088.1:p.Leu1511=
XM_011520545.3:c.4512+745_4512+747delinsTAG	XP_011518847.1:n.4512+745_4512+747delinsTAG
XR_931420.3:n.632-21959_632-21957delinsCTA
XR_931422.2:n.318-21959_318-21957delinsCTA
NM_001377273.1:c.4512+745_4512+747delinsTAG	NP_001364202.1:n.4512+745_4512+747delinsTAG
NM_001377274.1:c.3645+745_3645+747delinsTAG	NP_001364203.1:n.3645+745_3645+747delinsTAG
NM_005691.4:c.4571_4573delinsTAG	NP_005682.2:p.Leu1524=
NM_020297.4:c.4512+745_4512+747delinsTAG MANE Select	NP_064693.2:n.4512+745_4512+747delinsTAG