Canonical Allele Identifier: CA2580100377

Gene: AP1S2

Linked Data

• ClinVar Variation Id: 2444373
• ClinVar RCV Id: RCV003153171

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15852508del , CM000685.2:g.15852508del	GRCh38
NC_000023.10:g.15870631del , CM000685.1:g.15870631del	GRCh37
NC_000023.9:g.15780552del	NCBI36
NG_009274.1:g.7474del
NG_009274.2:g.7474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.21del	ENSP00000389474.2:p.Phe7LeufsTer?
ENST00000479184.2:c.21del	ENSP00000500850.1:p.Phe7LeufsTer?
ENST00000545766.7:c.-109-3del	ENSP00000444957.3:n.-109-3del
ENST00000671830.1:c.21del	ENSP00000500483.1:p.Phe7LeufsTer?
ENST00000672063.1:c.21del	ENSP00000500737.1:p.Phe7LeufsTer?
ENST00000672987.1:c.21del MANE Select	ENSP00000500695.1:p.Phe7LeufsTer?
ENST00000673445.1:c.21del	ENSP00000500798.1:p.Phe7LeufsTer?
ENST00000673591.1:c.21del	ENSP00000500066.1:p.Phe7LeufsTer?
ENST00000329235.6:c.21del	ENSP00000328789.2:p.Phe7LeufsTer?
ENST00000380291.5:c.21del	ENSP00000369645.1:p.Phe7LeufsTer?
ENST00000452376.5:c.10del
ENST00000545766.5:c.21del	ENSP00000444957.2:p.Phe7LeufsTer?
NM_001272071.1:c.21del	NP_001259000.1:p.Phe7LeufsTer?
NM_003916.4:c.21del	NP_003907.3:p.Phe7LeufsTer?
XM_005274614.3:c.147del	XP_005274671.1:p.Phe49LeufsTer?
XM_011545599.1:c.147del	XP_011543901.1:p.Phe49LeufsTer?
XR_247289.2:n.300del
XR_247290.3:n.235del
XM_017029925.1:c.147del	XP_016885414.1:p.Phe49LeufsTer?
XM_017029926.2:c.147del	XP_016885415.1:p.Phe49LeufsTer?
XR_001755741.2:n.300del
XR_002958809.1:n.71del
XR_247289.3:n.300del
XR_247290.4:n.300del
NM_001272071.2:c.21del MANE Select	NP_001259000.1:p.Phe7LeufsTer?
NM_001368994.1:c.21del	NP_001355923.1:p.Phe7LeufsTer?
NM_001369007.1:c.21del	NP_001355936.1:p.Phe7LeufsTer?
NM_001369008.1:c.21del	NP_001355937.1:p.Phe7LeufsTer?
NM_003916.5:c.21del	NP_003907.3:p.Phe7LeufsTer?
NR_160932.1:n.147del
NR_160933.1:n.147del