Canonical Allele Identifier: CA2529495794
Gene: SKAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48279713_48279714insTT , CM000679.2:g.48279713_48279714insTT GRCh38
NC_000017.10:g.46357075_46357076insTT , CM000679.1:g.46357075_46357076insTT GRCh37
NC_000017.9:g.43712074_43712075insTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336915.11:c.280+66191_280+66192insAA MANE Select ENSP00000338171.6:n.280+66191_280+66192insAA
ENST00000336915.10:c.280+66191_280+66192insAA ENSP00000338171.6:n.280+66191_280+66192insAA
ENST00000581400.2:c.101+66191_101+66192insAA
ENST00000581419.1:c.62-30685_62-30684insAA ENSP00000462437.1:n.62-30685_62-30684insAA
ENST00000584709.5:c.281-47812_281-47811insAA ENSP00000463284.1:n.281-47812_281-47811insAA
ENST00000584924.5:c.280+66191_280+66192insAA ENSP00000464311.1:n.280+66191_280+66192insAA
NM_001075099.1:c.280+66191_280+66192insAA NP_001068567.1:n.280+66191_280+66192insAA
NM_003726.3:c.280+66191_280+66192insAA NP_003717.3:n.280+66191_280+66192insAA
XM_005257755.2:c.280+66191_280+66192insAA XP_005257812.1:n.280+66191_280+66192insAA
XM_011525408.1:c.280+66191_280+66192insAA XP_011523710.1:n.280+66191_280+66192insAA
XM_011525409.1:c.280+66191_280+66192insAA XP_011523711.1:n.280+66191_280+66192insAA
XM_011525410.1:c.232+66191_232+66192insAA XP_011523712.1:n.232+66191_232+66192insAA
XM_011525411.1:c.280+66191_280+66192insAA XP_011523713.1:n.280+66191_280+66192insAA
XM_011525412.1:c.208+66191_208+66192insAA XP_011523714.1:n.208+66191_208+66192insAA
XM_011525414.1:c.-122+66191_-122+66192insAA XP_011523716.1:n.-122+66191_-122+66192insAA
XM_011525415.1:c.-3+64543_-3+64544insAA XP_011523717.1:n.-3+64543_-3+64544insAA
XM_005257755.4:c.280+66191_280+66192insAA XP_005257812.1:n.280+66191_280+66192insAA
XM_017025257.2:c.208+66191_208+66192insAA XP_016880746.1:n.208+66191_208+66192insAA
XM_017025259.1:c.-122+66191_-122+66192insAA XP_016880748.1:n.-122+66191_-122+66192insAA
XM_024451012.1:c.223+66191_223+66192insAA XP_024306780.1:n.223+66191_223+66192insAA
NM_003726.4:c.280+66191_280+66192insAA MANE Select NP_003717.3:n.280+66191_280+66192insAA
NM_001075099.2:c.280+66191_280+66192insAA NP_001068567.1:n.280+66191_280+66192insAA