Canonical Allele Identifier: CA2794816251

Gene: ABCC9

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805276_21805277insCCAAACACACCCAAC , CM000674.2:g.21805276_21805277insCCAAACACACCCAAC	GRCh38
NC_000012.11:g.21958210_21958211insCCAAACACACCCAAC , CM000674.1:g.21958210_21958211insCCAAACACACCCAAC	GRCh37
NC_000012.10:g.21849477_21849478insCCAAACACACCCAAC	NCBI36
NG_012819.1:g.136418_136419insGTTGGGTGTGTTTGG , LRG_377:g.136418_136419insGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4547_4548insGTTGGGTGTGTTTGG	ENSP00000261201.4:p.Val1516_Leu1517insLeuGlyValPheGly
ENST00000682426.1:n.2089+721_2089+722insGTTGGGTGTGTTTGG
ENST00000682879.1:c.*3610+721_*3610+722insGTTGGGTGTGTTTGG	ENSP00000508210.1:n.*3610+721_*3610+722insGTTGGGTGTGTTTGG
ENST00000683105.1:c.*536+721_*536+722insGTTGGGTGTGTTTGG	ENSP00000506801.1:n.*536+721_*536+722insGTTGGGTGTGTTTGG
ENST00000683676.1:c.4212-6139_4212-6138insGTTGGGTGTGTTTGG	ENSP00000508167.1:n.4212-6139_4212-6138insGTTGGGTGTGTTTGG
ENST00000683695.1:n.977+721_977+722insGTTGGGTGTGTTTGG
ENST00000684084.1:c.4461+721_4461+722insGTTGGGTGTGTTTGG	ENSP00000507859.1:n.4461+721_4461+722insGTTGGGTGTGTTTGG
ENST00000261200.9:c.4512+721_4512+722insGTTGGGTGTGTTTGG MANE Select	ENSP00000261200.4:n.4512+721_4512+722insGTTGGGTGTGTTTGG
ENST00000261201.9:c.4547_4548insGTTGGGTGTGTTTGG	ENSP00000261201.4:p.Val1516_Leu1517insLeuGlyValPheGly
ENST00000261200.8:c.4512+721_4512+722insGTTGGGTGTGTTTGG	ENSP00000261200.4:n.4512+721_4512+722insGTTGGGTGTGTTTGG
ENST00000261201.8:c.4547_4548insGTTGGGTGTGTTTGG	ENSP00000261201.4:p.Val1516_Leu1517insLeuGlyValPheGly
ENST00000544039.5:c.3428_3429insGTTGGGTGTGTTTGG	ENSP00000440521.1:p.Val1143_Leu1144insLeuGlyValPheGly
NM_005691.3:c.4547_4548insGTTGGGTGTGTTTGG	NP_005682.2:p.Val1516_Leu1517insLeuGlyValPheGly
NM_020297.3:c.4512+721_4512+722insGTTGGGTGTGTTTGG	NP_064693.2:n.4512+721_4512+722insGTTGGGTGTGTTTGG
XM_005253284.2:c.4512+721_4512+722insGTTGGGTGTGTTTGG	XP_005253341.1:n.4512+721_4512+722insGTTGGGTGTGTTTGG
XM_005253286.2:c.4512+721_4512+722insGTTGGGTGTGTTTGG	XP_005253343.1:n.4512+721_4512+722insGTTGGGTGTGTTTGG
XM_005253287.3:c.4547_4548insGTTGGGTGTGTTTGG	XP_005253344.1:p.Val1516_Leu1517insLeuGlyValPheGly
XM_005253288.2:c.4512+721_4512+722insGTTGGGTGTGTTTGG	XP_005253345.1:n.4512+721_4512+722insGTTGGGTGTGTTTGG
XM_005253289.2:c.4473+721_4473+722insGTTGGGTGTGTTTGG	XP_005253346.1:n.4473+721_4473+722insGTTGGGTGTGTTTGG
XM_005253290.2:c.4371+721_4371+722insGTTGGGTGTGTTTGG	XP_005253347.1:n.4371+721_4371+722insGTTGGGTGTGTTTGG
XM_006719025.2:c.4508_4509insGTTGGGTGTGTTTGG	XP_006719088.1:p.Val1503_Leu1504insLeuGlyValPheGly
XM_011520545.1:c.4512+721_4512+722insGTTGGGTGTGTTTGG	XP_011518847.1:n.4512+721_4512+722insGTTGGGTGTGTTTGG
XR_931420.1:n.632-21934_632-21933insCCAAACACACCCAAC
XR_931421.1:n.632-21934_632-21933insCCAAACACACCCAAC
XR_931422.1:n.306-21934_306-21933insCCAAACACACCCAAC
XM_005253284.4:c.4512+721_4512+722insGTTGGGTGTGTTTGG	XP_005253341.1:n.4512+721_4512+722insGTTGGGTGTGTTTGG
XM_005253286.4:c.4512+721_4512+722insGTTGGGTGTGTTTGG	XP_005253343.1:n.4512+721_4512+722insGTTGGGTGTGTTTGG
XM_005253287.5:c.4547_4548insGTTGGGTGTGTTTGG	XP_005253344.1:p.Val1516_Leu1517insLeuGlyValPheGly
XM_005253288.4:c.4512+721_4512+722insGTTGGGTGTGTTTGG	XP_005253345.1:n.4512+721_4512+722insGTTGGGTGTGTTTGG
XM_005253289.4:c.4473+721_4473+722insGTTGGGTGTGTTTGG	XP_005253346.1:n.4473+721_4473+722insGTTGGGTGTGTTTGG
XM_005253290.4:c.4371+721_4371+722insGTTGGGTGTGTTTGG	XP_005253347.1:n.4371+721_4371+722insGTTGGGTGTGTTTGG
XM_006719025.4:c.4508_4509insGTTGGGTGTGTTTGG	XP_006719088.1:p.Val1503_Leu1504insLeuGlyValPheGly
XM_011520545.3:c.4512+721_4512+722insGTTGGGTGTGTTTGG	XP_011518847.1:n.4512+721_4512+722insGTTGGGTGTGTTTGG
XR_931420.3:n.632-21934_632-21933insCCAAACACACCCAAC
XR_931422.2:n.318-21934_318-21933insCCAAACACACCCAAC
NM_001377273.1:c.4512+721_4512+722insGTTGGGTGTGTTTGG	NP_001364202.1:n.4512+721_4512+722insGTTGGGTGTGTTTGG
NM_001377274.1:c.3645+721_3645+722insGTTGGGTGTGTTTGG	NP_001364203.1:n.3645+721_3645+722insGTTGGGTGTGTTTGG
NM_005691.4:c.4547_4548insGTTGGGTGTGTTTGG	NP_005682.2:p.Val1516_Leu1517insLeuGlyValPheGly
NM_020297.4:c.4512+721_4512+722insGTTGGGTGTGTTTGG MANE Select	NP_064693.2:n.4512+721_4512+722insGTTGGGTGTGTTTGG