Canonical Allele Identifier: CA2580613854

Gene: MAP2K1 SNAPC5

Linked Data

• ClinVar Variation Id: 2501899
• ClinVar RCV Id: RCV003228318

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490514_66490517delinsG , CM000677.2:g.66490514_66490517delinsG	GRCh38
NC_000015.9:g.66782852_66782855delinsG , CM000677.1:g.66782852_66782855delinsG	GRCh37
NC_000015.8:g.64569906_64569909delinsG	NCBI36
NG_008305.1:g.108642_108645delinsG , LRG_725:g.108642_108645delinsG
NG_051234.1:g.12299_12302delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*129_*132delinsG (MAP2K1)	ENSP00000508681.1:n.*129_*132delinsG
ENST00000685172.1:c.1035_1038delinsG (MAP2K1)	ENSP00000509604.1:p.Ser346del
ENST00000685763.1:c.934_937delinsG (MAP2K1)	ENSP00000509016.1:p.Ile312_Lys313delinsGlu
ENST00000686347.1:c.754_757delinsG (MAP2K1)	ENSP00000509027.1:p.Ile252_Lys253delinsGlu
ENST00000687191.1:n.3361_3364delinsG (MAP2K1)
ENST00000687481.1:n.496_499delinsG (MAP2K1)
ENST00000688689.1:n.836_839delinsG (MAP2K1)
ENST00000689951.1:c.1132_1135delinsG (MAP2K1)	ENSP00000509308.1:p.Ile378_Lys379delinsGlu
ENST00000691077.1:c.*2240_*2243delinsG (MAP2K1)	ENSP00000509843.1:n.*2240_*2243delinsG
ENST00000691576.1:c.952_955delinsG (MAP2K1)	ENSP00000510066.1:p.Ile318_Lys319delinsGlu
ENST00000691937.1:c.*62_*65delinsG (MAP2K1)	ENSP00000508768.1:n.*62_*65delinsG
ENST00000692487.1:c.*2681_*2684delinsG (MAP2K1)	ENSP00000509534.1:n.*2681_*2684delinsG
ENST00000692683.1:c.1015_1018delinsG (MAP2K1)	ENSP00000508437.1:p.Ile339_Lys340delinsGlu
ENST00000693150.1:c.937_940delinsG (MAP2K1)	ENSP00000510309.1:p.Ile313_Lys314delinsGlu
ENST00000307102.10:c.1081_1084delinsG (MAP2K1) MANE Select	ENSP00000302486.5:p.Ile361_Lys362delinsGlu
ENST00000307102.9:c.1081_1084delinsG (MAP2K1)	ENSP00000302486.4:p.Ile361_Lys362delinsGlu
ENST00000395589.6:c.*222_*225delinsC (SNAPC5)	ENSP00000378954.2:n.*222_*225delinsC
ENST00000563480.6:c.*222_*225delinsC (SNAPC5)	ENSP00000457892.1:n.*222_*225delinsC
ENST00000566326.1:c.553_556delinsG (MAP2K1)	ENSP00000456438.1:p.Ile185_Lys186delinsGlu
NM_002755.3:c.1081_1084delinsG , LRG_725t1:c.1081_1084delinsG (MAP2K1)	NP_002746.1:p.Ile361_Lys362delinsGlu
NM_006049.2:c.*222_*225delinsC (SNAPC5)	NP_006040.1:n.*222_*225delinsC
XM_011521783.1:c.1015_1018delinsG (MAP2K1)	XP_011520085.1:p.Ile339_Lys340delinsGlu
NM_006049.3:c.*222_*225delinsC (SNAPC5)	NP_006040.1:n.*222_*225delinsC
NR_138061.1:n.741_744delinsC (SNAPC5)
XM_011521783.3:c.1015_1018delinsG (MAP2K1)	XP_011520085.1:p.Ile339_Lys340delinsGlu
XM_017022411.2:c.1003_1006delinsG (MAP2K1)	XP_016877900.1:p.Ile335_Lys336delinsGlu
XM_017022412.1:c.937_940delinsG (MAP2K1)	XP_016877901.1:p.Ile313_Lys314delinsGlu
XM_017022413.1:c.553_556delinsG (MAP2K1)	XP_016877902.1:p.Ile185_Lys186delinsGlu
NM_002755.4:c.1081_1084delinsG (MAP2K1) MANE Select	NP_002746.1:p.Ile361_Lys362delinsGlu
NM_006049.4:c.*222_*225delinsC (SNAPC5)	NP_006040.1:n.*222_*225delinsC
NR_138061.2:n.688_691delinsC (SNAPC5)