Canonical Allele Identifier: CA16619500
Community Standard Title: NM_020297.4(ABCC9):c.3841_3842delinsGT (p.Lys1281Val)
Gene: ABCC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21817237_21817238delinsAC , CM000674.2:g.21817237_21817238delinsAC GRCh38
NC_000012.11:g.21970171_21970172delinsAC , CM000674.1:g.21970171_21970172delinsAC GRCh37
NC_000012.10:g.21861438_21861439delinsAC NCBI36
NG_012819.1:g.124457_124458delinsGT , LRG_377:g.124457_124458delinsGT

Transcript Alleles

HGVS Amino-acid Change
NM_020297.4:c.3841_3842delinsGT MANE Select NP_064693.2:p.Lys1281Val
ENST00000261200.9:c.3841_3842delinsGT MANE Select ENSP00000261200.4:p.Lys1281Val
NM_001377273.1:c.3841_3842delinsGT NP_001364202.1:p.Lys1281Val
NM_001377274.1:c.2974_2975delinsGT NP_001364203.1:p.Lys992Val
NM_005691.3:c.3841_3842delinsGT NP_005682.2:p.Lys1281Val
NM_005691.4:c.3841_3842delinsGT NP_005682.2:p.Lys1281Val
NM_020297.3:c.3841_3842delinsGT NP_064693.2:p.Lys1281Val
ENST00000261200.8:c.3841_3842delinsGT ENSP00000261200.4:p.Lys1281Val
ENST00000261201.10:c.3841_3842delinsGT ENSP00000261201.4:p.Lys1281Val
ENST00000261201.8:c.3841_3842delinsGT ENSP00000261201.4:p.Lys1281Val
ENST00000261201.9:c.3841_3842delinsGT ENSP00000261201.4:p.Lys1281Val
ENST00000544039.5:c.2722_2723delinsGT ENSP00000440521.1:p.Lys908Val
ENST00000682426.1:n.1418_1419delinsGT
ENST00000682879.1:c.*2939_*2940delinsGT ENSP00000508210.1:n.*2939_*2940delinsGT
ENST00000683105.1:c.3771+912_3771+913delinsGT ENSP00000506801.1:n.3771+912_3771+913delinsGT
ENST00000683676.1:c.3841_3842delinsGT ENSP00000508167.1:p.Lys1281Val
ENST00000683695.1:n.306_307delinsGT
ENST00000683811.1:n.4184_4185delinsGT
ENST00000684084.1:c.3790_3791delinsGT ENSP00000507859.1:p.Lys1264Val
XM_005253284.2:c.3841_3842delinsGT XP_005253341.1:p.Lys1281Val
XM_005253284.4:c.3841_3842delinsGT XP_005253341.1:p.Lys1281Val
XM_005253286.2:c.3841_3842delinsGT XP_005253343.1:p.Lys1281Val
XM_005253286.4:c.3841_3842delinsGT XP_005253343.1:p.Lys1281Val
XM_005253287.3:c.3841_3842delinsGT XP_005253344.1:p.Lys1281Val
XM_005253287.5:c.3841_3842delinsGT XP_005253344.1:p.Lys1281Val
XM_005253288.2:c.3841_3842delinsGT XP_005253345.1:p.Lys1281Val
XM_005253288.4:c.3841_3842delinsGT XP_005253345.1:p.Lys1281Val
XM_005253289.2:c.3802_3803delinsGT XP_005253346.1:p.Lys1268Val
XM_005253289.4:c.3802_3803delinsGT XP_005253346.1:p.Lys1268Val
XM_005253290.2:c.3700_3701delinsGT XP_005253347.1:p.Lys1234Val
XM_005253290.4:c.3700_3701delinsGT XP_005253347.1:p.Lys1234Val
XM_006719025.2:c.3802_3803delinsGT XP_006719088.1:p.Lys1268Val
XM_006719025.4:c.3802_3803delinsGT XP_006719088.1:p.Lys1268Val
XM_011520545.1:c.3841_3842delinsGT XP_011518847.1:p.Lys1281Val
XM_011520545.3:c.3841_3842delinsGT XP_011518847.1:p.Lys1281Val
XR_931420.1:n.632-9973_632-9972delinsAC
XR_931420.3:n.632-9973_632-9972delinsAC
XR_931421.1:n.632-9973_632-9972delinsAC
XR_931422.1:n.306-9973_306-9972delinsAC
XR_931422.2:n.318-9973_318-9972delinsAC