Canonical Allele Identifier: CA327138002

Gene: AP1S2

Linked Data

• dbSNP Id: rs968946951
• gnomAD v3: X-15852572-TAA-T
• gnomAD v4: X-15852572-TAA-T
• MyVariant Identifiers: chrX:g.15870696_15870697del (hg19) ; chrX:g.15852573_15852574del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15852574_15852575del , CM000685.2:g.15852574_15852575del	GRCh38
NC_000023.10:g.15870697_15870698del , CM000685.1:g.15870697_15870698del	GRCh37
NC_000023.9:g.15780618_15780619del	NCBI36
NG_009274.1:g.7404_7405del
NG_009274.2:g.7404_7405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.1-50_1-49del	ENSP00000389474.2:n.1-50_1-49del
ENST00000479184.2:c.1-50_1-49del	ENSP00000500850.1:n.1-50_1-49del
ENST00000545766.7:c.-109-73_-109-72del	ENSP00000444957.3:n.-109-73_-109-72del
ENST00000671830.1:c.1-50_1-49del	ENSP00000500483.1:n.1-50_1-49del
ENST00000672063.1:c.1-50_1-49del	ENSP00000500737.1:n.1-50_1-49del
ENST00000672987.1:c.1-50_1-49del MANE Select	ENSP00000500695.1:n.1-50_1-49del
ENST00000673445.1:c.1-50_1-49del	ENSP00000500798.1:n.1-50_1-49del
ENST00000673591.1:c.1-50_1-49del	ENSP00000500066.1:n.1-50_1-49del
ENST00000329235.6:c.1-50_1-49del	ENSP00000328789.2:n.1-50_1-49del
ENST00000380291.5:c.1-50_1-49del	ENSP00000369645.1:n.1-50_1-49del
ENST00000545766.5:c.1-50_1-49del	ENSP00000444957.2:n.1-50_1-49del
NM_001272071.1:c.1-50_1-49del	NP_001259000.1:n.1-50_1-49del
NM_003916.4:c.1-50_1-49del	NP_003907.3:n.1-50_1-49del
XM_005274614.3:c.127-50_127-49del	XP_005274671.1:n.127-50_127-49del
XM_011545599.1:c.127-50_127-49del	XP_011543901.1:n.127-50_127-49del
XR_247289.2:n.280-50_280-49del
XR_247290.3:n.215-50_215-49del
XM_017029925.1:c.127-50_127-49del	XP_016885414.1:n.127-50_127-49del
XM_017029926.2:c.127-50_127-49del	XP_016885415.1:n.127-50_127-49del
XR_001755741.2:n.280-50_280-49del
XR_002958809.1:n.51-50_51-49del
XR_247289.3:n.280-50_280-49del
XR_247290.4:n.280-50_280-49del
NM_001272071.2:c.1-50_1-49del MANE Select	NP_001259000.1:n.1-50_1-49del
NM_001368994.1:c.1-50_1-49del	NP_001355923.1:n.1-50_1-49del
NM_001369007.1:c.1-50_1-49del	NP_001355936.1:n.1-50_1-49del
NM_001369008.1:c.1-50_1-49del	NP_001355937.1:n.1-50_1-49del
NM_003916.5:c.1-50_1-49del	NP_003907.3:n.1-50_1-49del
NR_160932.1:n.127-50_127-49del
NR_160933.1:n.127-50_127-49del