Canonical Allele Identifier: CA233594881

Gene: ABCC9

Linked Data

• dbSNP Id: rs548114644
• gnomAD v2: 12-21998380-TTATTC-T
• gnomAD v3: 12-21845446-TTATTC-T
• gnomAD v4: 12-21845446-TTATTC-T
• MyVariant Identifiers: chr12:g.21998381_21998385del (hg19) ; chr12:g.21845447_21845451del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21845451_21845455del , CM000674.2:g.21845451_21845455del	GRCh38
NC_000012.11:g.21998385_21998389del , CM000674.1:g.21998385_21998389del	GRCh37
NC_000012.10:g.21889652_21889656del	NCBI36
NG_012819.1:g.96244_96248del , LRG_377:g.96244_96248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.3096+152_3096+156del	ENSP00000261201.4:n.3096+152_3096+156del
ENST00000682068.1:c.3096+152_3096+156del	ENSP00000507226.1:n.3096+152_3096+156del
ENST00000682426.1:n.673+152_673+156del
ENST00000682879.1:c.*2194+152_*2194+156del	ENSP00000508210.1:n.*2194+152_*2194+156del
ENST00000683105.1:c.3096+152_3096+156del	ENSP00000506801.1:n.3096+152_3096+156del
ENST00000683676.1:c.3096+152_3096+156del	ENSP00000508167.1:n.3096+152_3096+156del
ENST00000683811.1:n.2597+152_2597+156del
ENST00000684084.1:c.3045+152_3045+156del	ENSP00000507859.1:n.3045+152_3045+156del
ENST00000261200.9:c.3096+152_3096+156del MANE Select	ENSP00000261200.4:n.3096+152_3096+156del
ENST00000261201.9:c.3096+152_3096+156del	ENSP00000261201.4:n.3096+152_3096+156del
ENST00000261200.8:c.3096+152_3096+156del	ENSP00000261200.4:n.3096+152_3096+156del
ENST00000261201.8:c.3096+152_3096+156del	ENSP00000261201.4:n.3096+152_3096+156del
ENST00000544039.5:c.1977+152_1977+156del	ENSP00000440521.1:n.1977+152_1977+156del
NM_005691.3:c.3096+152_3096+156del	NP_005682.2:n.3096+152_3096+156del
NM_020297.3:c.3096+152_3096+156del	NP_064693.2:n.3096+152_3096+156del
XM_005253284.2:c.3096+152_3096+156del	XP_005253341.1:n.3096+152_3096+156del
XM_005253286.2:c.3096+152_3096+156del	XP_005253343.1:n.3096+152_3096+156del
XM_005253287.3:c.3096+152_3096+156del	XP_005253344.1:n.3096+152_3096+156del
XM_005253288.2:c.3096+152_3096+156del	XP_005253345.1:n.3096+152_3096+156del
XM_005253289.2:c.3057+152_3057+156del	XP_005253346.1:n.3057+152_3057+156del
XM_005253290.2:c.2955+152_2955+156del	XP_005253347.1:n.2955+152_2955+156del
XM_006719025.2:c.3057+152_3057+156del	XP_006719088.1:n.3057+152_3057+156del
XM_011520545.1:c.3096+152_3096+156del	XP_011518847.1:n.3096+152_3096+156del
XM_005253284.4:c.3096+152_3096+156del	XP_005253341.1:n.3096+152_3096+156del
XM_005253286.4:c.3096+152_3096+156del	XP_005253343.1:n.3096+152_3096+156del
XM_005253287.5:c.3096+152_3096+156del	XP_005253344.1:n.3096+152_3096+156del
XM_005253288.4:c.3096+152_3096+156del	XP_005253345.1:n.3096+152_3096+156del
XM_005253289.4:c.3057+152_3057+156del	XP_005253346.1:n.3057+152_3057+156del
XM_005253290.4:c.2955+152_2955+156del	XP_005253347.1:n.2955+152_2955+156del
XM_006719025.4:c.3057+152_3057+156del	XP_006719088.1:n.3057+152_3057+156del
XM_011520545.3:c.3096+152_3096+156del	XP_011518847.1:n.3096+152_3096+156del
NM_001377273.1:c.3096+152_3096+156del	NP_001364202.1:n.3096+152_3096+156del
NM_001377274.1:c.2229+152_2229+156del	NP_001364203.1:n.2229+152_2229+156del
NM_005691.4:c.3096+152_3096+156del	NP_005682.2:n.3096+152_3096+156del
NM_020297.4:c.3096+152_3096+156del MANE Select	NP_064693.2:n.3096+152_3096+156del