Canonical Allele Identifier: CA2021290813

Gene: ABCC9

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805325_21805330delinsTAGAAA , CM000674.2:g.21805325_21805330delinsTAGAAA	GRCh38
NC_000012.11:g.21958259_21958264delinsTAGAAA , CM000674.1:g.21958259_21958264delinsTAGAAA	GRCh37
NC_000012.10:g.21849526_21849531delinsTAGAAA	NCBI36
NG_012819.1:g.136365_136370delinsTTTCTA , LRG_377:g.136365_136370delinsTTTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4513-19_4513-14delinsTTTCTA	ENSP00000261201.4:n.4513-19_4513-14delinsTTTCTA
ENST00000682426.1:n.2089+668_2089+673delinsTTTCTA
ENST00000682879.1:c.*3610+668_*3610+673delinsTTTCTA	ENSP00000508210.1:n.*3610+668_*3610+673delinsTTTCTA
ENST00000683105.1:c.*536+668_*536+673delinsTTTCTA	ENSP00000506801.1:n.*536+668_*536+673delinsTTTCTA
ENST00000683676.1:c.4212-6192_4212-6187delinsTTTCTA	ENSP00000508167.1:n.4212-6192_4212-6187delinsTTTCTA
ENST00000683695.1:n.977+668_977+673delinsTTTCTA
ENST00000684084.1:c.4461+668_4461+673delinsTTTCTA	ENSP00000507859.1:n.4461+668_4461+673delinsTTTCTA
ENST00000261200.9:c.4512+668_4512+673delinsTTTCTA MANE Select	ENSP00000261200.4:n.4512+668_4512+673delinsTTTCTA
ENST00000261201.9:c.4513-19_4513-14delinsTTTCTA	ENSP00000261201.4:n.4513-19_4513-14delinsTTTCTA
ENST00000261200.8:c.4512+668_4512+673delinsTTTCTA	ENSP00000261200.4:n.4512+668_4512+673delinsTTTCTA
ENST00000261201.8:c.4513-19_4513-14delinsTTTCTA	ENSP00000261201.4:n.4513-19_4513-14delinsTTTCTA
ENST00000544039.5:c.3394-19_3394-14delinsTTTCTA	ENSP00000440521.1:n.3394-19_3394-14delinsTTTCTA
NM_005691.3:c.4513-19_4513-14delinsTTTCTA	NP_005682.2:n.4513-19_4513-14delinsTTTCTA
NM_020297.3:c.4512+668_4512+673delinsTTTCTA	NP_064693.2:n.4512+668_4512+673delinsTTTCTA
XM_005253284.2:c.4512+668_4512+673delinsTTTCTA	XP_005253341.1:n.4512+668_4512+673delinsTTTCTA
XM_005253286.2:c.4512+668_4512+673delinsTTTCTA	XP_005253343.1:n.4512+668_4512+673delinsTTTCTA
XM_005253287.3:c.4513-19_4513-14delinsTTTCTA	XP_005253344.1:n.4513-19_4513-14delinsTTTCTA
XM_005253288.2:c.4512+668_4512+673delinsTTTCTA	XP_005253345.1:n.4512+668_4512+673delinsTTTCTA
XM_005253289.2:c.4473+668_4473+673delinsTTTCTA	XP_005253346.1:n.4473+668_4473+673delinsTTTCTA
XM_005253290.2:c.4371+668_4371+673delinsTTTCTA	XP_005253347.1:n.4371+668_4371+673delinsTTTCTA
XM_006719025.2:c.4474-19_4474-14delinsTTTCTA	XP_006719088.1:n.4474-19_4474-14delinsTTTCTA
XM_011520545.1:c.4512+668_4512+673delinsTTTCTA	XP_011518847.1:n.4512+668_4512+673delinsTTTCTA
XR_931420.1:n.632-21885_632-21880delinsTAGAAA
XR_931421.1:n.632-21885_632-21880delinsTAGAAA
XR_931422.1:n.306-21885_306-21880delinsTAGAAA
XM_005253284.4:c.4512+668_4512+673delinsTTTCTA	XP_005253341.1:n.4512+668_4512+673delinsTTTCTA
XM_005253286.4:c.4512+668_4512+673delinsTTTCTA	XP_005253343.1:n.4512+668_4512+673delinsTTTCTA
XM_005253287.5:c.4513-19_4513-14delinsTTTCTA	XP_005253344.1:n.4513-19_4513-14delinsTTTCTA
XM_005253288.4:c.4512+668_4512+673delinsTTTCTA	XP_005253345.1:n.4512+668_4512+673delinsTTTCTA
XM_005253289.4:c.4473+668_4473+673delinsTTTCTA	XP_005253346.1:n.4473+668_4473+673delinsTTTCTA
XM_005253290.4:c.4371+668_4371+673delinsTTTCTA	XP_005253347.1:n.4371+668_4371+673delinsTTTCTA
XM_006719025.4:c.4474-19_4474-14delinsTTTCTA	XP_006719088.1:n.4474-19_4474-14delinsTTTCTA
XM_011520545.3:c.4512+668_4512+673delinsTTTCTA	XP_011518847.1:n.4512+668_4512+673delinsTTTCTA
XR_931420.3:n.632-21885_632-21880delinsTAGAAA
XR_931422.2:n.318-21885_318-21880delinsTAGAAA
NM_001377273.1:c.4512+668_4512+673delinsTTTCTA	NP_001364202.1:n.4512+668_4512+673delinsTTTCTA
NM_001377274.1:c.3645+668_3645+673delinsTTTCTA	NP_001364203.1:n.3645+668_3645+673delinsTTTCTA
NM_005691.4:c.4513-19_4513-14delinsTTTCTA	NP_005682.2:n.4513-19_4513-14delinsTTTCTA
NM_020297.4:c.4512+668_4512+673delinsTTTCTA MANE Select	NP_064693.2:n.4512+668_4512+673delinsTTTCTA