Canonical Allele Identifier: CA2533992748

Gene: SKAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48334088_48334089del , CM000679.2:g.48334088_48334089del	GRCh38
NC_000017.10:g.46411450_46411451del , CM000679.1:g.46411450_46411451del	GRCh37
NC_000017.9:g.43766449_43766450del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336915.11:c.280+11816_280+11817del MANE Select	ENSP00000338171.6:n.280+11816_280+11817de...
ENST00000336915.10:c.280+11816_280+11817del	ENSP00000338171.6:n.280+11816_280+11817de...
ENST00000581400.2:c.101+11816_101+11817del
ENST00000581419.1:c.61+11816_61+11817del	ENSP00000462437.1:n.61+11816_61+11817del
ENST00000584709.5:c.280+11816_280+11817del	ENSP00000463284.1:n.280+11816_280+11817de...
ENST00000584924.5:c.280+11816_280+11817del	ENSP00000464311.1:n.280+11816_280+11817de...
NM_001075099.1:c.280+11816_280+11817del	NP_001068567.1:n.280+11816_280+11817del
NM_003726.3:c.280+11816_280+11817del	NP_003717.3:n.280+11816_280+11817del
XM_005257755.2:c.280+11816_280+11817del	XP_005257812.1:n.280+11816_280+11817del
XM_011525408.1:c.280+11816_280+11817del	XP_011523710.1:n.280+11816_280+11817del
XM_011525409.1:c.280+11816_280+11817del	XP_011523711.1:n.280+11816_280+11817del
XM_011525410.1:c.232+11816_232+11817del	XP_011523712.1:n.232+11816_232+11817del
XM_011525411.1:c.280+11816_280+11817del	XP_011523713.1:n.280+11816_280+11817del
XM_011525412.1:c.208+11816_208+11817del	XP_011523714.1:n.208+11816_208+11817del
XM_011525414.1:c.-122+11816_-122+11817del	XP_011523716.1:n.-122+11816_-122+11817del...
XM_011525415.1:c.-3+10168_-3+10169del	XP_011523717.1:n.-3+10168_-3+10169del
XM_005257755.4:c.280+11816_280+11817del	XP_005257812.1:n.280+11816_280+11817del
XM_017025257.2:c.208+11816_208+11817del	XP_016880746.1:n.208+11816_208+11817del
XM_017025259.1:c.-122+11816_-122+11817del	XP_016880748.1:n.-122+11816_-122+11817del...
XM_024451012.1:c.223+11816_223+11817del	XP_024306780.1:n.223+11816_223+11817del
NM_003726.4:c.280+11816_280+11817del MANE Select	NP_003717.3:n.280+11816_280+11817del
NM_001075099.2:c.280+11816_280+11817del	NP_001068567.1:n.280+11816_280+11817del