Canonical Allele Identifier: CA1955138548

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428595_17428596delinsAG , CM000673.2:g.17428595_17428596delinsAG	GRCh38
NC_000011.9:g.17450142_17450143delinsAG , CM000673.1:g.17450142_17450143delinsAG	GRCh37
NC_000011.8:g.17406718_17406719delinsAG	NCBI36
NG_008867.1:g.53307_53308delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1561_1562delinsCT
ENST00000642611.2:n.1958_1959delinsCT
ENST00000682051.1:n.1905_1906delinsCT
ENST00000682110.1:n.1958_1959delinsCT
ENST00000682140.1:c.1889_1890delinsCT	ENSP00000507829.1:p.Pro630=
ENST00000682185.1:n.3197_3198delinsCT
ENST00000682204.1:c.*30_*31delinsCT	ENSP00000507094.1:n.*30_*31delinsCT
ENST00000682215.1:n.1958_1959delinsCT
ENST00000682288.1:c.*320_*321delinsCT	ENSP00000507506.1:n.*320_*321delinsCT
ENST00000682442.1:n.2079_2080delinsCT
ENST00000682528.1:n.1958_1959delinsCT
ENST00000682673.1:n.1905_1906delinsCT
ENST00000682805.1:n.1958_1959delinsCT
ENST00000682965.1:c.1889_1890delinsCT	ENSP00000508229.1:p.Pro630=
ENST00000683093.1:n.2060_2061delinsCT
ENST00000683136.1:c.1889_1890delinsCT	ENSP00000507768.1:p.Pro630=
ENST00000683153.1:n.1958_1959delinsCT
ENST00000683253.1:n.2974_2975delinsCT
ENST00000683365.1:n.2060_2061delinsCT
ENST00000683377.1:n.1958_1959delinsCT
ENST00000683456.1:c.1889_1890delinsCT	ENSP00000508318.1:p.Pro630=
ENST00000683522.1:n.1958_1959delinsCT
ENST00000683562.1:c.*61_*62delinsCT	ENSP00000508265.1:n.*61_*62delinsCT
ENST00000683693.1:n.1958_1959delinsCT
ENST00000683725.1:c.1892_1893delinsCT	ENSP00000507496.1:p.Pro631=
ENST00000684010.1:n.1958_1959delinsCT
ENST00000684157.1:n.1958_1959delinsCT
ENST00000684253.1:n.1864_1865delinsCT
ENST00000684288.1:c.*61_*62delinsCT	ENSP00000507143.1:n.*61_*62delinsCT
ENST00000684313.1:n.1724-11634_1724-11633delinsCT
ENST00000684332.1:n.2031_2032delinsCT
ENST00000684371.1:n.1905_1906delinsCT
ENST00000684404.1:n.1958_1959delinsCT
ENST00000684442.1:n.1958_1959delinsCT
ENST00000684555.1:c.*101_*102delinsCT	ENSP00000507705.1:n.*101_*102delinsCT
ENST00000684571.1:c.1733_1734delinsCT	ENSP00000506935.1:p.Pro578=
ENST00000684593.1:c.*1597_*1598delinsCT	ENSP00000507005.1:n.*1597_*1598delinsCT
ENST00000684711.1:c.*288_*289delinsCT	ENSP00000506841.1:n.*288_*289delinsCT
ENST00000302539.9:c.1892_1893delinsCT	ENSP00000303960.4:p.Pro631=
ENST00000389817.8:c.1892_1893delinsCT MANE Select	ENSP00000374467.4:p.Pro631=
ENST00000532728.6:c.1473_1474delinsCT
ENST00000642271.1:c.1889_1890delinsCT	ENSP00000493749.1:p.Pro630=
ENST00000642611.1:n.1843_1844delinsCT
ENST00000642902.1:c.1727_1728delinsCT
ENST00000643260.1:c.1889_1890delinsCT	ENSP00000494450.1:p.Pro630=
ENST00000643562.1:c.1892_1893delinsCT	ENSP00000496124.1:p.Pro631=
ENST00000644447.1:c.245_246delinsCT	ENSP00000496282.1:p.Pro82=
ENST00000644472.1:c.*253_*254delinsCT	ENSP00000495378.1:n.*253_*254delinsCT
ENST00000644484.1:c.*101_*102delinsCT	ENSP00000493558.1:n.*101_*102delinsCT
ENST00000644542.1:c.*1594_*1595delinsCT	ENSP00000495532.1:n.*1594_*1595delinsCT
ENST00000644649.1:c.1062_1063delinsCT
ENST00000644675.1:c.*61_*62delinsCT	ENSP00000494567.1:n.*61_*62delinsCT
ENST00000644757.1:c.*194_*195delinsCT	ENSP00000495085.1:n.*194_*195delinsCT
ENST00000644772.1:c.1892_1893delinsCT	ENSP00000494321.1:p.Pro631=
ENST00000645076.1:c.1144_1145delinsCT
ENST00000645744.1:c.*253_*254delinsCT	ENSP00000494564.1:n.*253_*254delinsCT
ENST00000645760.1:c.2167_2168delinsCT
ENST00000645884.1:c.1889_1890delinsCT	ENSP00000495516.1:p.Pro630=
ENST00000646003.1:c.*30_*31delinsCT	ENSP00000495259.1:n.*30_*31delinsCT
ENST00000646207.1:c.*253_*254delinsCT	ENSP00000495025.1:n.*253_*254delinsCT
ENST00000646276.1:c.*162_*163delinsCT	ENSP00000496070.1:n.*162_*163delinsCT
ENST00000646592.1:c.956_957delinsCT
ENST00000646902.1:c.1889_1890delinsCT	ENSP00000494101.1:p.Pro630=
ENST00000646993.1:c.*288_*289delinsCT	ENSP00000493720.1:n.*288_*289delinsCT
ENST00000647013.1:c.1895_1896delinsCT	ENSP00000496741.1:n.1895_1896delinsCT
ENST00000647015.1:c.1672-191_1672-190delinsCT	ENSP00000495389.1:n.1672-191_1672-190delinsCT
ENST00000647086.1:c.*1619_*1620delinsCT	ENSP00000493677.1:n.*1619_*1620delinsCT
ENST00000647158.1:c.*30_*31delinsCT	ENSP00000495744.1:n.*30_*31delinsCT
ENST00000302539.8:c.1892_1893delinsCT	ENSP00000303960.4:p.Pro631=
ENST00000389817.7:c.1892_1893delinsCT	ENSP00000374467.3:p.Pro631=
ENST00000527905.5:c.1862_1863delinsCT	ENSP00000431653.1:p.Pro621=
NM_000352.4:c.1892_1893delinsCT	NP_000343.2:p.Pro631=
NM_001287174.1:c.1892_1893delinsCT	NP_001274103.1:p.Pro631=
XM_011520331.1:c.1889_1890delinsCT	XP_011518633.1:p.Pro630=
XM_011520332.1:c.1892_1893delinsCT	XP_011518634.1:p.Pro631=
XM_011520333.1:c.389_390delinsCT	XP_011518635.1:p.Pro130=
XM_011520334.1:c.1892_1893delinsCT	XP_011518636.1:p.Pro631=
XR_930890.1:n.1955_1956delinsCT
XR_930891.1:n.1955_1956delinsCT
XR_930892.1:n.1955_1956delinsCT
XR_930893.1:n.1955_1956delinsCT
NM_001351295.1:c.1892_1893delinsCT	NP_001338224.1:p.Pro631=
NM_001351296.1:c.1889_1890delinsCT	NP_001338225.1:p.Pro630=
NM_001351297.1:c.1889_1890delinsCT	NP_001338226.1:p.Pro630=
NR_147094.1:n.1958_1959delinsCT
XM_017018197.2:c.1892_1893delinsCT	XP_016873686.1:p.Pro631=
XM_017018199.1:c.1889_1890delinsCT	XP_016873688.1:p.Pro630=
XM_017018201.2:c.1892_1893delinsCT	XP_016873690.1:p.Pro631=
XM_017018202.1:c.389_390delinsCT	XP_016873691.1:p.Pro130=
XM_017018204.1:c.-152_-151delinsCT	XP_016873693.1:n.-152_-151delinsCT
XM_024448668.1:c.257_258delinsCT	XP_024304436.1:p.Pro86=
XR_001747945.2:n.1964_1965delinsCT
XR_001747946.2:n.1964_1965delinsCT
XR_002957189.1:n.1964_1965delinsCT
NM_000352.6:c.1892_1893delinsCT MANE Select	NP_000343.2:p.Pro631=
NM_001287174.2:c.1892_1893delinsCT	NP_001274103.1:p.Pro631=
NM_001351295.2:c.1892_1893delinsCT	NP_001338224.1:p.Pro631=
NM_001351296.2:c.1889_1890delinsCT	NP_001338225.1:p.Pro630=
NM_001351297.2:c.1889_1890delinsCT	NP_001338226.1:p.Pro630=
NR_147094.2:n.1958_1959delinsCT
NM_001287174.3:c.1892_1893delinsCT	NP_001274103.1:p.Pro631=