Canonical Allele Identifier: CA233613824
Community Standard Title: NM_020297.4(ABCC9):c.4102+295del
Gene: ABCC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21814350del , CM000674.2:g.21814350del GRCh38
NC_000012.11:g.21967284del , CM000674.1:g.21967284del GRCh37
NC_000012.10:g.21858551del NCBI36
NG_012819.1:g.127346del , LRG_377:g.127346del

Transcript Alleles

HGVS Amino-acid Change
NM_020297.4:c.4102+295del MANE Select NP_064693.2:n.4102+295del
ENST00000261200.9:c.4102+295del MANE Select ENSP00000261200.4:n.4102+295del
NM_001377273.1:c.4102+295del NP_001364202.1:n.4102+295del
NM_001377274.1:c.3235+295del NP_001364203.1:n.3235+295del
NM_005691.3:c.4102+295del NP_005682.2:n.4102+295del
NM_005691.4:c.4102+295del NP_005682.2:n.4102+295del
NM_020297.3:c.4102+295del NP_064693.2:n.4102+295del
ENST00000261200.8:c.4102+295del ENSP00000261200.4:n.4102+295del
ENST00000261201.10:c.4102+295del ENSP00000261201.4:n.4102+295del
ENST00000261201.8:c.4102+295del ENSP00000261201.4:n.4102+295del
ENST00000261201.9:c.4102+295del ENSP00000261201.4:n.4102+295del
ENST00000544039.5:c.2983+295del ENSP00000440521.1:n.2983+295del
ENST00000682426.1:n.1679+295del
ENST00000682879.1:c.*3200+295del ENSP00000508210.1:n.*3200+295del
ENST00000683105.1:c.*126+295del ENSP00000506801.1:n.*126+295del
ENST00000683676.1:c.4102+295del ENSP00000508167.1:n.4102+295del
ENST00000683695.1:n.567+295del
ENST00000684084.1:c.4051+295del ENSP00000507859.1:n.4051+295del
XM_005253284.2:c.4102+295del XP_005253341.1:n.4102+295del
XM_005253284.4:c.4102+295del XP_005253341.1:n.4102+295del
XM_005253286.2:c.4102+295del XP_005253343.1:n.4102+295del
XM_005253286.4:c.4102+295del XP_005253343.1:n.4102+295del
XM_005253287.3:c.4102+295del XP_005253344.1:n.4102+295del
XM_005253287.5:c.4102+295del XP_005253344.1:n.4102+295del
XM_005253288.2:c.4102+295del XP_005253345.1:n.4102+295del
XM_005253288.4:c.4102+295del XP_005253345.1:n.4102+295del
XM_005253289.2:c.4063+295del XP_005253346.1:n.4063+295del
XM_005253289.4:c.4063+295del XP_005253346.1:n.4063+295del
XM_005253290.2:c.3961+295del XP_005253347.1:n.3961+295del
XM_005253290.4:c.3961+295del XP_005253347.1:n.3961+295del
XM_006719025.2:c.4063+295del XP_006719088.1:n.4063+295del
XM_006719025.4:c.4063+295del XP_006719088.1:n.4063+295del
XM_011520545.1:c.4102+295del XP_011518847.1:n.4102+295del
XM_011520545.3:c.4102+295del XP_011518847.1:n.4102+295del
XR_931420.1:n.632-12860del
XR_931420.3:n.632-12860del
XR_931421.1:n.632-12860del
XR_931422.1:n.306-12860del
XR_931422.2:n.318-12860del