Canonical Allele Identifier: CA2830536368

Gene: JAKMIP1 C4orf50

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6048701_6048702insTCTCTT , CM000666.2:g.6048701_6048702insTCTCTT	GRCh38
NC_000004.11:g.6050428_6050429insTCTCTT , CM000666.1:g.6050428_6050429insTCTCTT	GRCh37
NC_000004.10:g.6101329_6101330insTCTCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409021.9:c.2028+156_2028+157insAGAGAA (JAKMIP1) MANE Select	ENSP00000386711.3:n.2028+156_2028+157insAGAGAA
ENST00000409371.8:c.1473+156_1473+157insAGAGAA (JAKMIP1)	ENSP00000387042.3:n.1473+156_1473+157insAGAGAA
ENST00000531445.3:c.-2919+156_-2919+157insAGAGAA (C4orf50)	ENSP00000437121.2:n.-2919+156_-2919+157insAGAGAA
ENST00000637373.2:c.732+156_732+157insAGAGAA (JAKMIP1)	ENSP00000490067.1:n.732+156_732+157insAGAGAA
ENST00000409021.7:c.2028+156_2028+157insAGAGAA (JAKMIP1)	ENSP00000386711.3:n.2028+156_2028+157insAGAGAA
ENST00000409371.7:c.1473+156_1473+157insAGAGAA (JAKMIP1)	ENSP00000387042.3:n.1473+156_1473+157insAGAGAA
NM_001099433.1:c.2028+156_2028+157insAGAGAA (JAKMIP1)	NP_001092903.1:n.2028+156_2028+157insAGAGAA
XM_017007788.1:c.2028+156_2028+157insAGAGAA (JAKMIP1)	XP_016863277.1:n.2028+156_2028+157insAGAGAA
XM_017007789.1:c.2028+156_2028+157insAGAGAA (JAKMIP1)	XP_016863278.1:n.2028+156_2028+157insAGAGAA
XM_017007790.1:c.2028+156_2028+157insAGAGAA (JAKMIP1)	XP_016863279.1:n.2028+156_2028+157insAGAGAA
XM_017007791.1:c.2028+156_2028+157insAGAGAA (JAKMIP1)	XP_016863280.1:n.2028+156_2028+157insAGAGAA
XM_017007792.1:c.2028+156_2028+157insAGAGAA (JAKMIP1)	XP_016863281.1:n.2028+156_2028+157insAGAGAA
XM_017007793.1:c.2028+156_2028+157insAGAGAA (JAKMIP1)	XP_016863282.1:n.2028+156_2028+157insAGAGAA
XM_017007794.1:c.2028+156_2028+157insAGAGAA (JAKMIP1)	XP_016863283.1:n.2028+156_2028+157insAGAGAA
XM_017007795.1:c.1962+1118_1962+1119insAGAGAA (JAKMIP1)	XP_016863284.1:n.1962+1118_1962+1119insAGAGAA
XM_017007797.1:c.1533+156_1533+157insAGAGAA (JAKMIP1)	XP_016863286.1:n.1533+156_1533+157insAGAGAA
XM_017007798.1:c.1533+156_1533+157insAGAGAA (JAKMIP1)	XP_016863287.1:n.1533+156_1533+157insAGAGAA
XM_017007799.1:c.1533+156_1533+157insAGAGAA (JAKMIP1)	XP_016863288.1:n.1533+156_1533+157insAGAGAA
NM_001099433.2:c.2028+156_2028+157insAGAGAA (JAKMIP1) MANE Select	NP_001092903.1:n.2028+156_2028+157insAGAGAA