Canonical Allele Identifier: CA686448220

Gene: ABCC9

Linked Data

• dbSNP Id: rs1377794883
• gnomAD v3: 12-21906508-CAT-C
• gnomAD v4: 12-21906508-CAT-C
• MyVariant Identifiers: chr12:g.22059443_22059444del (hg19) ; chr12:g.21906509_21906510del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21906509_21906510del , CM000674.2:g.21906509_21906510del	GRCh38
NC_000012.11:g.22059443_22059444del , CM000674.1:g.22059443_22059444del	GRCh37
NC_000012.10:g.21950710_21950711del	NCBI36
NG_012819.1:g.35185_35186del , LRG_377:g.35185_35186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.1456-222_1456-221del	ENSP00000261201.4:n.1456-222_1456-221del
ENST00000682068.1:c.1456-222_1456-221del	ENSP00000507226.1:n.1456-222_1456-221del
ENST00000682789.1:n.1707-222_1707-221del
ENST00000682879.1:c.*557-222_*557-221del	ENSP00000508210.1:n.*557-222_*557-221del
ENST00000683105.1:c.1456-222_1456-221del	ENSP00000506801.1:n.1456-222_1456-221del
ENST00000683676.1:c.1456-222_1456-221del	ENSP00000508167.1:n.1456-222_1456-221del
ENST00000684084.1:c.1456-222_1456-221del	ENSP00000507859.1:n.1456-222_1456-221del
ENST00000684543.1:n.1801-222_1801-221del
ENST00000261200.9:c.1456-222_1456-221del MANE Select	ENSP00000261200.4:n.1456-222_1456-221del
ENST00000261201.9:c.1456-222_1456-221del	ENSP00000261201.4:n.1456-222_1456-221del
ENST00000261200.8:c.1456-222_1456-221del	ENSP00000261200.4:n.1456-222_1456-221del
ENST00000261201.8:c.1456-222_1456-221del	ENSP00000261201.4:n.1456-222_1456-221del
ENST00000544039.5:c.445-222_445-221del	ENSP00000440521.1:n.445-222_445-221del
NM_005691.3:c.1456-222_1456-221del	NP_005682.2:n.1456-222_1456-221del
NM_020297.3:c.1456-222_1456-221del	NP_064693.2:n.1456-222_1456-221del
XM_005253284.2:c.1456-222_1456-221del	XP_005253341.1:n.1456-222_1456-221del
XM_005253286.2:c.1456-222_1456-221del	XP_005253343.1:n.1456-222_1456-221del
XM_005253287.3:c.1456-222_1456-221del	XP_005253344.1:n.1456-222_1456-221del
XM_005253288.2:c.1456-222_1456-221del	XP_005253345.1:n.1456-222_1456-221del
XM_005253289.2:c.1456-222_1456-221del	XP_005253346.1:n.1456-222_1456-221del
XM_005253290.2:c.1456-222_1456-221del	XP_005253347.1:n.1456-222_1456-221del
XM_006719025.2:c.1456-222_1456-221del	XP_006719088.1:n.1456-222_1456-221del
XM_011520545.1:c.1456-222_1456-221del	XP_011518847.1:n.1456-222_1456-221del
XM_005253284.4:c.1456-222_1456-221del	XP_005253341.1:n.1456-222_1456-221del
XM_005253286.4:c.1456-222_1456-221del	XP_005253343.1:n.1456-222_1456-221del
XM_005253287.5:c.1456-222_1456-221del	XP_005253344.1:n.1456-222_1456-221del
XM_005253288.4:c.1456-222_1456-221del	XP_005253345.1:n.1456-222_1456-221del
XM_005253289.4:c.1456-222_1456-221del	XP_005253346.1:n.1456-222_1456-221del
XM_005253290.4:c.1456-222_1456-221del	XP_005253347.1:n.1456-222_1456-221del
XM_006719025.4:c.1456-222_1456-221del	XP_006719088.1:n.1456-222_1456-221del
XM_011520545.3:c.1456-222_1456-221del	XP_011518847.1:n.1456-222_1456-221del
NM_001377273.1:c.1456-222_1456-221del	NP_001364202.1:n.1456-222_1456-221del
NM_001377274.1:c.592-222_592-221del	NP_001364203.1:n.592-222_592-221del
NM_005691.4:c.1456-222_1456-221del	NP_005682.2:n.1456-222_1456-221del
NM_020297.4:c.1456-222_1456-221del MANE Select	NP_064693.2:n.1456-222_1456-221del