Canonical Allele Identifier: CA2546401518

Gene: SKAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48279705_48279706insGAA , CM000679.2:g.48279705_48279706insGAA	GRCh38
NC_000017.10:g.46357067_46357068insGAA , CM000679.1:g.46357067_46357068insGAA	GRCh37
NC_000017.9:g.43712066_43712067insGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336915.11:c.280+66199_280+66200insTTC MANE Select	ENSP00000338171.6:n.280+66199_280+66200insTTC
ENST00000336915.10:c.280+66199_280+66200insTTC	ENSP00000338171.6:n.280+66199_280+66200insTTC
ENST00000581400.2:c.101+66199_101+66200insTTC
ENST00000581419.1:c.62-30677_62-30676insTTC	ENSP00000462437.1:n.62-30677_62-30676insTTC
ENST00000584709.5:c.281-47804_281-47803insTTC	ENSP00000463284.1:n.281-47804_281-47803insTTC
ENST00000584924.5:c.280+66199_280+66200insTTC	ENSP00000464311.1:n.280+66199_280+66200insTTC
NM_001075099.1:c.280+66199_280+66200insTTC	NP_001068567.1:n.280+66199_280+66200insTTC
NM_003726.3:c.280+66199_280+66200insTTC	NP_003717.3:n.280+66199_280+66200insTTC
XM_005257755.2:c.280+66199_280+66200insTTC	XP_005257812.1:n.280+66199_280+66200insTTC
XM_011525408.1:c.280+66199_280+66200insTTC	XP_011523710.1:n.280+66199_280+66200insTTC
XM_011525409.1:c.280+66199_280+66200insTTC	XP_011523711.1:n.280+66199_280+66200insTTC
XM_011525410.1:c.232+66199_232+66200insTTC	XP_011523712.1:n.232+66199_232+66200insTTC
XM_011525411.1:c.280+66199_280+66200insTTC	XP_011523713.1:n.280+66199_280+66200insTTC
XM_011525412.1:c.208+66199_208+66200insTTC	XP_011523714.1:n.208+66199_208+66200insTTC
XM_011525414.1:c.-122+66199_-122+66200insTTC	XP_011523716.1:n.-122+66199_-122+66200insTTC
XM_011525415.1:c.-3+64551_-3+64552insTTC	XP_011523717.1:n.-3+64551_-3+64552insTTC
XM_005257755.4:c.280+66199_280+66200insTTC	XP_005257812.1:n.280+66199_280+66200insTTC
XM_017025257.2:c.208+66199_208+66200insTTC	XP_016880746.1:n.208+66199_208+66200insTTC
XM_017025259.1:c.-122+66199_-122+66200insTTC	XP_016880748.1:n.-122+66199_-122+66200insTTC
XM_024451012.1:c.223+66199_223+66200insTTC	XP_024306780.1:n.223+66199_223+66200insTTC
NM_003726.4:c.280+66199_280+66200insTTC MANE Select	NP_003717.3:n.280+66199_280+66200insTTC
NM_001075099.2:c.280+66199_280+66200insTTC	NP_001068567.1:n.280+66199_280+66200insTTC