Canonical Allele Identifier: CA1696086123

Gene: SKAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.26851899_26851901delinsACT , CM000669.2:g.26851899_26851901delinsACT	GRCh38
NC_000007.13:g.26891518_26891520delinsACT , CM000669.1:g.26891518_26891520delinsACT	GRCh37
NC_000007.12:g.26858043_26858045delinsACT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000345317.7:c.199+2236_199+2238delinsAGT MANE Select	ENSP00000005587.2:n.199+2236_199+2238delinsAGT
ENST00000345317.6:c.199+2236_199+2238delinsAGT	ENSP00000005587.2:n.199+2236_199+2238delinsAGT
ENST00000432747.1:c.154+2236_154+2238delinsAGT	ENSP00000408163.1:n.154+2236_154+2238delinsAGT
ENST00000468712.5:n.360+2236_360+2238delinsAGT
ENST00000481204.5:n.404+2236_404+2238delinsAGT
ENST00000487720.1:n.355+2236_355+2238delinsAGT
ENST00000490456.6:n.372+2236_372+2238delinsAGT
ENST00000495802.5:n.166+2236_166+2238delinsAGT
ENST00000497511.5:n.357+2236_357+2238delinsAGT
NM_001303468.1:c.-318+2236_-318+2238delinsAGT	NP_001290397.1:n.-318+2236_-318+2238delinsAGT
NM_003930.4:c.199+2236_199+2238delinsAGT	NP_003921.2:n.199+2236_199+2238delinsAGT
XR_927132.1:n.252-5565_252-5563delinsACT
XM_017012771.2:c.199+2236_199+2238delinsAGT	XP_016868260.1:n.199+2236_199+2238delinsAGT
NM_003930.5:c.199+2236_199+2238delinsAGT MANE Select	NP_003921.2:n.199+2236_199+2238delinsAGT
NM_001303468.2:c.-318+2236_-318+2238delinsAGT	NP_001290397.1:n.-318+2236_-318+2238delinsAGT