Canonical Allele Identifier: CA2417074274

Gene: AP1S2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15852018_15852022delinsTCACA , CM000685.2:g.15852018_15852022delinsTCACA	GRCh38
NC_000023.10:g.15870141_15870145delinsTCACA , CM000685.1:g.15870141_15870145delinsTCACA	GRCh37
NC_000023.9:g.15780062_15780066delinsTCACA	NCBI36
NG_009274.1:g.7956_7960delinsTGTGA
NG_009274.2:g.7956_7960delinsTGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.179+324_179+328delinsTGTGA	ENSP00000389474.2:n.179+324_179+328delinsTGTGA
ENST00000479184.2:c.179+324_179+328delinsTGTGA	ENSP00000500850.1:n.179+324_179+328delinsTGTGA
ENST00000545766.7:c.47+324_47+328delinsTGTGA	ENSP00000444957.3:n.47+324_47+328delinsTGTGA
ENST00000671830.1:c.179+324_179+328delinsTGTGA	ENSP00000500483.1:n.179+324_179+328delinsTGTGA
ENST00000672063.1:c.179+324_179+328delinsTGTGA	ENSP00000500737.1:n.179+324_179+328delinsTGTGA
ENST00000672987.1:c.179+324_179+328delinsTGTGA MANE Select	ENSP00000500695.1:n.179+324_179+328delinsTGTGA
ENST00000673445.1:c.179+324_179+328delinsTGTGA	ENSP00000500798.1:n.179+324_179+328delinsTGTGA
ENST00000673591.1:c.179+324_179+328delinsTGTGA	ENSP00000500066.1:n.179+324_179+328delinsTGTGA
ENST00000329235.6:c.179+324_179+328delinsTGTGA	ENSP00000328789.2:n.179+324_179+328delinsTGTGA
ENST00000380291.5:c.179+324_179+328delinsTGTGA	ENSP00000369645.1:n.179+324_179+328delinsTGTGA
ENST00000450644.1:c.157+324_157+328delinsTGTGA
ENST00000452376.5:c.168+324_168+328delinsTGTGA
ENST00000545766.5:c.179+324_179+328delinsTGTGA	ENSP00000444957.2:n.179+324_179+328delinsTGTGA
NM_001272071.1:c.179+324_179+328delinsTGTGA	NP_001259000.1:n.179+324_179+328delinsTGTGA
NM_003916.4:c.179+324_179+328delinsTGTGA	NP_003907.3:n.179+324_179+328delinsTGTGA
XM_005274614.3:c.305+324_305+328delinsTGTGA	XP_005274671.1:n.305+324_305+328delinsTGTGA
XM_011545599.1:c.305+324_305+328delinsTGTGA	XP_011543901.1:n.305+324_305+328delinsTGTGA
XR_247289.2:n.458+324_458+328delinsTGTGA
XR_247290.3:n.393+324_393+328delinsTGTGA
XM_017029925.1:c.305+324_305+328delinsTGTGA	XP_016885414.1:n.305+324_305+328delinsTGTGA
XM_017029926.2:c.305+324_305+328delinsTGTGA	XP_016885415.1:n.305+324_305+328delinsTGTGA
XR_001755741.2:n.458+324_458+328delinsTGTGA
XR_002958809.1:n.229+324_229+328delinsTGTGA
XR_247289.3:n.458+324_458+328delinsTGTGA
XR_247290.4:n.458+324_458+328delinsTGTGA
NM_001272071.2:c.179+324_179+328delinsTGTGA MANE Select	NP_001259000.1:n.179+324_179+328delinsTGTGA
NM_001368994.1:c.179+324_179+328delinsTGTGA	NP_001355923.1:n.179+324_179+328delinsTGTGA
NM_001369007.1:c.179+324_179+328delinsTGTGA	NP_001355936.1:n.179+324_179+328delinsTGTGA
NM_001369008.1:c.179+324_179+328delinsTGTGA	NP_001355937.1:n.179+324_179+328delinsTGTGA
NM_003916.5:c.179+324_179+328delinsTGTGA	NP_003907.3:n.179+324_179+328delinsTGTGA
NR_160932.1:n.305+324_305+328delinsTGTGA
NR_160933.1:n.305+324_305+328delinsTGTGA