Canonical Allele Identifier: CA837140900

Gene: SKAP2

Linked Data

• dbSNP Id: rs1385226034
• MyVariant Identifiers: chr7:g.26891519_26891520del (hg19) ; chr7:g.26851900_26851901del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.26851902_26851903del , CM000669.2:g.26851902_26851903del	GRCh38
NC_000007.13:g.26891521_26891522del , CM000669.1:g.26891521_26891522del	GRCh37
NC_000007.12:g.26858046_26858047del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345317.7:c.199+2236_199+2237del MANE Select	ENSP00000005587.2:n.199+2236_199+2237del
ENST00000345317.6:c.199+2236_199+2237del	ENSP00000005587.2:n.199+2236_199+2237del
ENST00000432747.1:c.154+2236_154+2237del	ENSP00000408163.1:n.154+2236_154+2237del
ENST00000468712.5:n.360+2236_360+2237del
ENST00000481204.5:n.404+2236_404+2237del
ENST00000487720.1:n.355+2236_355+2237del
ENST00000490456.6:n.372+2236_372+2237del
ENST00000495802.5:n.166+2236_166+2237del
ENST00000497511.5:n.357+2236_357+2237del
NM_001303468.1:c.-318+2236_-318+2237del	NP_001290397.1:n.-318+2236_-318+2237del
NM_003930.4:c.199+2236_199+2237del	NP_003921.2:n.199+2236_199+2237del
XR_927132.1:n.252-5562_252-5561del
XM_017012771.2:c.199+2236_199+2237del	XP_016868260.1:n.199+2236_199+2237del
NM_003930.5:c.199+2236_199+2237del MANE Select	NP_003921.2:n.199+2236_199+2237del
NM_001303468.2:c.-318+2236_-318+2237del	NP_001290397.1:n.-318+2236_-318+2237del