Canonical Allele Identifier: CA2593016272

Gene: ABCC9

Linked Data

• dbSNP Id: rs2137376813
• gnomAD v3: 12-21843143-CCTTT-C
• gnomAD v4: 12-21843143-CCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21843145_21843148del , CM000674.2:g.21843145_21843148del	GRCh38
NC_000012.11:g.21996079_21996082del , CM000674.1:g.21996079_21996082del	GRCh37
NC_000012.10:g.21887346_21887349del	NCBI36
NG_012819.1:g.98548_98551del , LRG_377:g.98548_98551del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261201.10:c.3316-676_3316-673del	ENSP00000261201.4:n.3316-676_3316-673del
ENST00000682068.1:c.3316-676_3316-673del	ENSP00000507226.1:n.3316-676_3316-673del
ENST00000682426.1:n.893-676_893-673del
ENST00000682879.1:c.*2414-676_*2414-673del	ENSP00000508210.1:n.*2414-676_*2414-673de...
ENST00000683105.1:c.3316-676_3316-673del	ENSP00000506801.1:n.3316-676_3316-673del
ENST00000683676.1:c.3316-676_3316-673del	ENSP00000508167.1:n.3316-676_3316-673del
ENST00000683811.1:n.2817-676_2817-673del
ENST00000684084.1:c.3265-676_3265-673del	ENSP00000507859.1:n.3265-676_3265-673del
ENST00000261200.9:c.3316-676_3316-673del MANE Select	ENSP00000261200.4:n.3316-676_3316-673del
ENST00000261201.9:c.3316-676_3316-673del	ENSP00000261201.4:n.3316-676_3316-673del
ENST00000261200.8:c.3316-676_3316-673del	ENSP00000261200.4:n.3316-676_3316-673del
ENST00000261201.8:c.3316-676_3316-673del	ENSP00000261201.4:n.3316-676_3316-673del
ENST00000544039.5:c.2197-676_2197-673del	ENSP00000440521.1:n.2197-676_2197-673del
NM_005691.3:c.3316-676_3316-673del	NP_005682.2:n.3316-676_3316-673del
NM_020297.3:c.3316-676_3316-673del	NP_064693.2:n.3316-676_3316-673del
XM_005253284.2:c.3316-676_3316-673del	XP_005253341.1:n.3316-676_3316-673del
XM_005253286.2:c.3316-676_3316-673del	XP_005253343.1:n.3316-676_3316-673del
XM_005253287.3:c.3316-676_3316-673del	XP_005253344.1:n.3316-676_3316-673del
XM_005253288.2:c.3316-676_3316-673del	XP_005253345.1:n.3316-676_3316-673del
XM_005253289.2:c.3277-676_3277-673del	XP_005253346.1:n.3277-676_3277-673del
XM_005253290.2:c.3175-676_3175-673del	XP_005253347.1:n.3175-676_3175-673del
XM_006719025.2:c.3277-676_3277-673del	XP_006719088.1:n.3277-676_3277-673del
XM_011520545.1:c.3316-676_3316-673del	XP_011518847.1:n.3316-676_3316-673del
XM_005253284.4:c.3316-676_3316-673del	XP_005253341.1:n.3316-676_3316-673del
XM_005253286.4:c.3316-676_3316-673del	XP_005253343.1:n.3316-676_3316-673del
XM_005253287.5:c.3316-676_3316-673del	XP_005253344.1:n.3316-676_3316-673del
XM_005253288.4:c.3316-676_3316-673del	XP_005253345.1:n.3316-676_3316-673del
XM_005253289.4:c.3277-676_3277-673del	XP_005253346.1:n.3277-676_3277-673del
XM_005253290.4:c.3175-676_3175-673del	XP_005253347.1:n.3175-676_3175-673del
XM_006719025.4:c.3277-676_3277-673del	XP_006719088.1:n.3277-676_3277-673del
XM_011520545.3:c.3316-676_3316-673del	XP_011518847.1:n.3316-676_3316-673del
NM_001377273.1:c.3316-676_3316-673del	NP_001364202.1:n.3316-676_3316-673del
NM_001377274.1:c.2449-676_2449-673del	NP_001364203.1:n.2449-676_2449-673del
NM_005691.4:c.3316-676_3316-673del	NP_005682.2:n.3316-676_3316-673del
NM_020297.4:c.3316-676_3316-673del MANE Select	NP_064693.2:n.3316-676_3316-673del