Canonical Allele Identifier: CA2578170136

Gene: ALPK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112411978_112411980del , CM000666.2:g.112411978_112411980del	GRCh38
NC_000004.11:g.113333134_113333136del , CM000666.1:g.113333134_113333136del	GRCh37
NC_000004.10:g.113552583_113552585del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458497.6:c.428_430del	ENSP00000398048.1:p.Ile143_Ala144delinsThr
ENST00000650871.1:c.428_430del MANE Select	ENSP00000498374.1:p.Ile143_Ala144delinsThr
ENST00000177648.13:c.428_430del	ENSP00000177648.9:p.Ile143_Ala144delinsThr
ENST00000458497.5:c.428_430del	ENSP00000398048.1:p.Ile143_Ala144delinsThr
ENST00000504176.6:c.194_196del	ENSP00000426044.2:p.Ile65_Ala66delinsThr
ENST00000504745.1:n.201_203del
ENST00000505127.5:c.428_430del	ENSP00000425559.1:p.Ile143_Ala144delinsThr
ENST00000505912.1:n.387_389del
ENST00000509722.5:c.273_275del	ENSP00000424492.1:p.Cys92del
ENST00000515106.1:c.273_275del	ENSP00000425273.1:p.Cys92del
ENST00000515330.5:c.428_430del	ENSP00000423978.1:p.Ile143_Ala144delinsThr
NM_001102406.1:c.428_430del	NP_001095876.1:p.Ile143_Ala144delinsThr
NM_001253884.1:c.194_196del	NP_001240813.1:p.Ile65_Ala66delinsThr
NM_025144.3:c.428_430del	NP_079420.3:p.Ile143_Ala144delinsThr
XM_005263245.3:c.428_430del	XP_005263302.1:p.Ile143_Ala144delinsThr
XM_005263246.3:c.428_430del	XP_005263303.1:p.Ile143_Ala144delinsThr
XM_005263247.3:c.194_196del	XP_005263304.1:p.Ile65_Ala66delinsThr
XM_005263248.3:c.194_196del	XP_005263305.1:p.Ile65_Ala66delinsThr
XM_006714326.2:c.428_430del	XP_006714389.1:p.Ile143_Ala144delinsThr
XM_011532280.1:c.428_430del	XP_011530582.1:p.Ile143_Ala144delinsThr
XM_011532281.1:c.428_430del	XP_011530583.1:p.Ile143_Ala144delinsThr
XM_011532282.1:c.428_430del	XP_011530584.1:p.Ile143_Ala144delinsThr
XM_011532283.1:c.428_430del	XP_011530585.1:p.Ile143_Ala144delinsThr
XM_005263245.4:c.428_430del	XP_005263302.1:p.Ile143_Ala144delinsThr
XM_005263246.4:c.428_430del	XP_005263303.1:p.Ile143_Ala144delinsThr
XM_006714326.3:c.428_430del	XP_006714389.1:p.Ile143_Ala144delinsThr
XM_017008633.1:c.428_430del	XP_016864122.1:p.Ile143_Ala144delinsThr
XM_017008634.1:c.428_430del	XP_016864123.1:p.Ile143_Ala144delinsThr
XM_017008635.1:c.428_430del	XP_016864124.1:p.Ile143_Ala144delinsThr
XM_017008636.1:c.428_430del	XP_016864125.1:p.Ile143_Ala144delinsThr
XM_017008637.1:c.428_430del	XP_016864126.1:p.Ile143_Ala144delinsThr
XM_017008638.2:c.428_430del	XP_016864127.1:p.Ile143_Ala144delinsThr
XM_017008639.1:c.428_430del	XP_016864128.1:p.Ile143_Ala144delinsThr
XM_017008640.1:c.428_430del	XP_016864129.1:p.Ile143_Ala144delinsThr
XM_017008641.2:c.428_430del	XP_016864130.1:p.Ile143_Ala144delinsThr
XM_017008642.1:c.428_430del	XP_016864131.1:p.Ile143_Ala144delinsThr
XM_017008643.1:c.428_430del	XP_016864132.1:p.Ile143_Ala144delinsThr
XM_017008644.1:c.359_361del	XP_016864133.1:p.Ile120_Ala121delinsThr
XM_017008645.1:c.428_430del	XP_016864134.1:p.Ile143_Ala144delinsThr
XM_017008646.1:c.428_430del	XP_016864135.1:p.Ile143_Ala144delinsThr
XM_017008647.1:c.194_196del	XP_016864136.1:p.Ile65_Ala66delinsThr
XM_017008648.1:c.194_196del	XP_016864137.1:p.Ile65_Ala66delinsThr
XM_017008651.1:c.-157_-155del	XP_016864140.1:n.-157_-155del
NM_025144.4:c.428_430del MANE Select	NP_079420.3:p.Ile143_Ala144delinsThr
NM_001102406.2:c.428_430del	NP_001095876.1:p.Ile143_Ala144delinsThr
NM_001253884.2:c.194_196del	NP_001240813.1:p.Ile65_Ala66delinsThr