Canonical Allele Identifier: CA2794816247

Gene: ABCC9

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805272_21805273insACC , CM000674.2:g.21805272_21805273insACC	GRCh38
NC_000012.11:g.21958206_21958207insACC , CM000674.1:g.21958206_21958207insACC	GRCh37
NC_000012.10:g.21849473_21849474insACC	NCBI36
NG_012819.1:g.136423_136424insGTG , LRG_377:g.136423_136424insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4552_4553insGTG	ENSP00000261201.4:p.Leu1517_Val1518insGly
ENST00000682426.1:n.2089+726_2089+727insGTG
ENST00000682879.1:c.*3610+726_*3610+727insGTG	ENSP00000508210.1:n.*3610+726_*3610+727insGTG
ENST00000683105.1:c.*536+726_*536+727insGTG	ENSP00000506801.1:n.*536+726_*536+727insGTG
ENST00000683676.1:c.4212-6134_4212-6133insGTG	ENSP00000508167.1:n.4212-6134_4212-6133insGTG
ENST00000683695.1:n.977+726_977+727insGTG
ENST00000684084.1:c.4461+726_4461+727insGTG	ENSP00000507859.1:n.4461+726_4461+727insGTG
ENST00000261200.9:c.4512+726_4512+727insGTG MANE Select	ENSP00000261200.4:n.4512+726_4512+727insGTG
ENST00000261201.9:c.4552_4553insGTG	ENSP00000261201.4:p.Leu1517_Val1518insGly
ENST00000261200.8:c.4512+726_4512+727insGTG	ENSP00000261200.4:n.4512+726_4512+727insGTG
ENST00000261201.8:c.4552_4553insGTG	ENSP00000261201.4:p.Leu1517_Val1518insGly
ENST00000544039.5:c.3433_3434insGTG	ENSP00000440521.1:p.Leu1144_Val1145insGly
NM_005691.3:c.4552_4553insGTG	NP_005682.2:p.Leu1517_Val1518insGly
NM_020297.3:c.4512+726_4512+727insGTG	NP_064693.2:n.4512+726_4512+727insGTG
XM_005253284.2:c.4512+726_4512+727insGTG	XP_005253341.1:n.4512+726_4512+727insGTG
XM_005253286.2:c.4512+726_4512+727insGTG	XP_005253343.1:n.4512+726_4512+727insGTG
XM_005253287.3:c.4552_4553insGTG	XP_005253344.1:p.Leu1517_Val1518insGly
XM_005253288.2:c.4512+726_4512+727insGTG	XP_005253345.1:n.4512+726_4512+727insGTG
XM_005253289.2:c.4473+726_4473+727insGTG	XP_005253346.1:n.4473+726_4473+727insGTG
XM_005253290.2:c.4371+726_4371+727insGTG	XP_005253347.1:n.4371+726_4371+727insGTG
XM_006719025.2:c.4513_4514insGTG	XP_006719088.1:p.Leu1504_Val1505insGly
XM_011520545.1:c.4512+726_4512+727insGTG	XP_011518847.1:n.4512+726_4512+727insGTG
XR_931420.1:n.632-21938_632-21937insACC
XR_931421.1:n.632-21938_632-21937insACC
XR_931422.1:n.306-21938_306-21937insACC
XM_005253284.4:c.4512+726_4512+727insGTG	XP_005253341.1:n.4512+726_4512+727insGTG
XM_005253286.4:c.4512+726_4512+727insGTG	XP_005253343.1:n.4512+726_4512+727insGTG
XM_005253287.5:c.4552_4553insGTG	XP_005253344.1:p.Leu1517_Val1518insGly
XM_005253288.4:c.4512+726_4512+727insGTG	XP_005253345.1:n.4512+726_4512+727insGTG
XM_005253289.4:c.4473+726_4473+727insGTG	XP_005253346.1:n.4473+726_4473+727insGTG
XM_005253290.4:c.4371+726_4371+727insGTG	XP_005253347.1:n.4371+726_4371+727insGTG
XM_006719025.4:c.4513_4514insGTG	XP_006719088.1:p.Leu1504_Val1505insGly
XM_011520545.3:c.4512+726_4512+727insGTG	XP_011518847.1:n.4512+726_4512+727insGTG
XR_931420.3:n.632-21938_632-21937insACC
XR_931422.2:n.318-21938_318-21937insACC
NM_001377273.1:c.4512+726_4512+727insGTG	NP_001364202.1:n.4512+726_4512+727insGTG
NM_001377274.1:c.3645+726_3645+727insGTG	NP_001364203.1:n.3645+726_3645+727insGTG
NM_005691.4:c.4552_4553insGTG	NP_005682.2:p.Leu1517_Val1518insGly
NM_020297.4:c.4512+726_4512+727insGTG MANE Select	NP_064693.2:n.4512+726_4512+727insGTG