Canonical Allele Identifier: CA945526552

Gene: ABCC9

Linked Data

• dbSNP Id: rs1418085421
• gnomAD v3: 12-21924889-CTT-C
• gnomAD v4: 12-21924889-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21924894_21924895del , CM000674.2:g.21924894_21924895del	GRCh38
NC_000012.11:g.22077828_22077829del , CM000674.1:g.22077828_22077829del	GRCh37
NC_000012.10:g.21969095_21969096del	NCBI36
NG_012819.1:g.16804_16805del , LRG_377:g.16804_16805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.406+1051_406+1052del	ENSP00000261201.4:n.406+1051_406+1052del
ENST00000621589.2:c.407-1035_407-1034del	ENSP00000480233.1:n.407-1035_407-1034del
ENST00000682068.1:c.406+1051_406+1052del	ENSP00000507226.1:n.406+1051_406+1052del
ENST00000682789.1:n.657+1051_657+1052del
ENST00000682879.1:c.406+1051_406+1052del	ENSP00000508210.1:n.406+1051_406+1052del
ENST00000683105.1:c.406+1051_406+1052del	ENSP00000506801.1:n.406+1051_406+1052del
ENST00000683676.1:c.406+1051_406+1052del	ENSP00000508167.1:n.406+1051_406+1052del
ENST00000684084.1:c.406+1051_406+1052del	ENSP00000507859.1:n.406+1051_406+1052del
ENST00000684435.1:c.*965_*966del	ENSP00000507779.1:n.*965_*966del
ENST00000684543.1:n.751+1051_751+1052del
ENST00000261200.9:c.406+1051_406+1052del MANE Select	ENSP00000261200.4:n.406+1051_406+1052del
ENST00000261201.9:c.406+1051_406+1052del	ENSP00000261201.4:n.406+1051_406+1052del
ENST00000636888.1:c.407-1035_407-1034del	ENSP00000490640.1:n.407-1035_407-1034del
ENST00000261200.8:c.406+1051_406+1052del	ENSP00000261200.4:n.406+1051_406+1052del
ENST00000261201.8:c.406+1051_406+1052del	ENSP00000261201.4:n.406+1051_406+1052del
ENST00000326684.8:c.407-1035_407-1034del	ENSP00000317518.4:n.407-1035_407-1034del
ENST00000538350.5:c.*562_*563del	ENSP00000442604.1:n.*562_*563del
ENST00000621589.1:c.407-1035_407-1034del	ENSP00000480233.1:n.407-1035_407-1034del
NM_005691.3:c.406+1051_406+1052del	NP_005682.2:n.406+1051_406+1052del
NM_020297.3:c.406+1051_406+1052del	NP_064693.2:n.406+1051_406+1052del
XM_005253284.2:c.406+1051_406+1052del	XP_005253341.1:n.406+1051_406+1052del
XM_005253286.2:c.406+1051_406+1052del	XP_005253343.1:n.406+1051_406+1052del
XM_005253287.3:c.406+1051_406+1052del	XP_005253344.1:n.406+1051_406+1052del
XM_005253288.2:c.406+1051_406+1052del	XP_005253345.1:n.406+1051_406+1052del
XM_005253289.2:c.406+1051_406+1052del	XP_005253346.1:n.406+1051_406+1052del
XM_005253290.2:c.406+1051_406+1052del	XP_005253347.1:n.406+1051_406+1052del
XM_006719025.2:c.406+1051_406+1052del	XP_006719088.1:n.406+1051_406+1052del
XM_011520545.1:c.406+1051_406+1052del	XP_011518847.1:n.406+1051_406+1052del
XM_005253284.4:c.406+1051_406+1052del	XP_005253341.1:n.406+1051_406+1052del
XM_005253286.4:c.406+1051_406+1052del	XP_005253343.1:n.406+1051_406+1052del
XM_005253287.5:c.406+1051_406+1052del	XP_005253344.1:n.406+1051_406+1052del
XM_005253288.4:c.406+1051_406+1052del	XP_005253345.1:n.406+1051_406+1052del
XM_005253289.4:c.406+1051_406+1052del	XP_005253346.1:n.406+1051_406+1052del
XM_005253290.4:c.406+1051_406+1052del	XP_005253347.1:n.406+1051_406+1052del
XM_006719025.4:c.406+1051_406+1052del	XP_006719088.1:n.406+1051_406+1052del
XM_011520545.3:c.406+1051_406+1052del	XP_011518847.1:n.406+1051_406+1052del
NM_001377273.1:c.406+1051_406+1052del	NP_001364202.1:n.406+1051_406+1052del
NM_001377274.1:c.-49+1051_-49+1052del	NP_001364203.1:n.-49+1051_-49+1052del
NM_005691.4:c.406+1051_406+1052del	NP_005682.2:n.406+1051_406+1052del
NM_020297.4:c.406+1051_406+1052del MANE Select	NP_064693.2:n.406+1051_406+1052del