Canonical Allele Identifier: CA2580071365

Gene: ALPK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112432129_112432130delinsCA , CM000666.2:g.112432129_112432130delinsCA	GRCh38
NC_000004.11:g.113353285_113353286delinsCA , CM000666.1:g.113353285_113353286delinsCA	GRCh37
NC_000004.10:g.113572734_113572735delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458497.6:c.2582_2583delinsCA	ENSP00000398048.1:p.Met861Thr
ENST00000650871.1:c.2582_2583delinsCA MANE Select	ENSP00000498374.1:p.Met861Thr
ENST00000177648.13:c.2582_2583delinsCA	ENSP00000177648.9:p.Met861Thr
ENST00000458497.5:c.2582_2583delinsCA	ENSP00000398048.1:p.Met861Thr
ENST00000504176.6:c.2348_2349delinsCA	ENSP00000426044.2:p.Met783Thr
ENST00000504745.1:n.3070_3071delinsCA
ENST00000505127.5:c.900+2876_900+2877delinsCA	ENSP00000425559.1:n.900+2876_900+2877delinsCA
ENST00000509722.5:c.*2025_*2026delinsCA	ENSP00000424492.1:n.*2025_*2026delinsCA
NM_001102406.1:c.2582_2583delinsCA	NP_001095876.1:p.Met861Thr
NM_001253884.1:c.2348_2349delinsCA	NP_001240813.1:p.Met783Thr
NM_025144.3:c.2582_2583delinsCA	NP_079420.3:p.Met861Thr
XM_005263245.3:c.2582_2583delinsCA	XP_005263302.1:p.Met861Thr
XM_005263246.3:c.2582_2583delinsCA	XP_005263303.1:p.Met861Thr
XM_005263247.3:c.2348_2349delinsCA	XP_005263304.1:p.Met783Thr
XM_005263248.3:c.2348_2349delinsCA	XP_005263305.1:p.Met783Thr
XM_006714326.2:c.2522_2523delinsCA	XP_006714389.1:p.Met841Thr
XM_011532280.1:c.2582_2583delinsCA	XP_011530582.1:p.Met861Thr
XM_011532281.1:c.2582_2583delinsCA	XP_011530583.1:p.Met861Thr
XM_011532282.1:c.2582_2583delinsCA	XP_011530584.1:p.Met861Thr
XM_011532283.1:c.2582_2583delinsCA	XP_011530585.1:p.Met861Thr
XM_005263245.4:c.2582_2583delinsCA	XP_005263302.1:p.Met861Thr
XM_005263246.4:c.2582_2583delinsCA	XP_005263303.1:p.Met861Thr
XM_006714326.3:c.2522_2523delinsCA	XP_006714389.1:p.Met841Thr
XM_017008633.1:c.2600_2601delinsCA	XP_016864122.1:p.Met867Thr
XM_017008634.1:c.2600_2601delinsCA	XP_016864123.1:p.Met867Thr
XM_017008635.1:c.2600_2601delinsCA	XP_016864124.1:p.Met867Thr
XM_017008636.1:c.2600_2601delinsCA	XP_016864125.1:p.Met867Thr
XM_017008637.1:c.2600_2601delinsCA	XP_016864126.1:p.Met867Thr
XM_017008638.2:c.2600_2601delinsCA	XP_016864127.1:p.Met867Thr
XM_017008639.1:c.2600_2601delinsCA	XP_016864128.1:p.Met867Thr
XM_017008640.1:c.2600_2601delinsCA	XP_016864129.1:p.Met867Thr
XM_017008641.2:c.2600_2601delinsCA	XP_016864130.1:p.Met867Thr
XM_017008642.1:c.2600_2601delinsCA	XP_016864131.1:p.Met867Thr
XM_017008643.1:c.2540_2541delinsCA	XP_016864132.1:p.Met847Thr
XM_017008644.1:c.2531_2532delinsCA	XP_016864133.1:p.Met844Thr
XM_017008645.1:c.2522_2523delinsCA	XP_016864134.1:p.Met841Thr
XM_017008646.1:c.2477_2478delinsCA	XP_016864135.1:p.Met826Thr
XM_017008647.1:c.2366_2367delinsCA	XP_016864136.1:p.Met789Thr
XM_017008648.1:c.2366_2367delinsCA	XP_016864137.1:p.Met789Thr
XM_017008649.2:c.1976_1977delinsCA	XP_016864138.1:p.Met659Thr
XM_017008651.1:c.1958_1959delinsCA	XP_016864140.1:p.Met653Thr
NM_025144.4:c.2582_2583delinsCA MANE Select	NP_079420.3:p.Met861Thr
NM_001102406.2:c.2582_2583delinsCA	NP_001095876.1:p.Met861Thr
NM_001253884.2:c.2348_2349delinsCA	NP_001240813.1:p.Met783Thr