Canonical Allele Identifier: CA2560815327

Gene: AP1S2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15852123_15852124insTTTAGA , CM000685.2:g.15852123_15852124insTTTAGA	GRCh38
NC_000023.10:g.15870246_15870247insTTTAGA , CM000685.1:g.15870246_15870247insTTTAGA	GRCh37
NC_000023.9:g.15780167_15780168insTTTAGA	NCBI36
NG_009274.1:g.7854_7855insTCTAAA
NG_009274.2:g.7854_7855insTCTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.179+222_179+223insTCTAAA	ENSP00000389474.2:n.179+222_179+223insTCTAAA
ENST00000479184.2:c.179+222_179+223insTCTAAA	ENSP00000500850.1:n.179+222_179+223insTCTAAA
ENST00000545766.7:c.47+222_47+223insTCTAAA	ENSP00000444957.3:n.47+222_47+223insTCTAAA
ENST00000671830.1:c.179+222_179+223insTCTAAA	ENSP00000500483.1:n.179+222_179+223insTCTAAA
ENST00000672063.1:c.179+222_179+223insTCTAAA	ENSP00000500737.1:n.179+222_179+223insTCTAAA
ENST00000672987.1:c.179+222_179+223insTCTAAA MANE Select	ENSP00000500695.1:n.179+222_179+223insTCTAAA
ENST00000673445.1:c.179+222_179+223insTCTAAA	ENSP00000500798.1:n.179+222_179+223insTCTAAA
ENST00000673591.1:c.179+222_179+223insTCTAAA	ENSP00000500066.1:n.179+222_179+223insTCTAAA
ENST00000329235.6:c.179+222_179+223insTCTAAA	ENSP00000328789.2:n.179+222_179+223insTCTAAA
ENST00000380291.5:c.179+222_179+223insTCTAAA	ENSP00000369645.1:n.179+222_179+223insTCTAAA
ENST00000450644.1:c.157+222_157+223insTCTAAA
ENST00000452376.5:c.168+222_168+223insTCTAAA
ENST00000545766.5:c.179+222_179+223insTCTAAA	ENSP00000444957.2:n.179+222_179+223insTCTAAA
NM_001272071.1:c.179+222_179+223insTCTAAA	NP_001259000.1:n.179+222_179+223insTCTAAA
NM_003916.4:c.179+222_179+223insTCTAAA	NP_003907.3:n.179+222_179+223insTCTAAA
XM_005274614.3:c.305+222_305+223insTCTAAA	XP_005274671.1:n.305+222_305+223insTCTAAA
XM_011545599.1:c.305+222_305+223insTCTAAA	XP_011543901.1:n.305+222_305+223insTCTAAA
XR_247289.2:n.458+222_458+223insTCTAAA
XR_247290.3:n.393+222_393+223insTCTAAA
XM_017029925.1:c.305+222_305+223insTCTAAA	XP_016885414.1:n.305+222_305+223insTCTAAA
XM_017029926.2:c.305+222_305+223insTCTAAA	XP_016885415.1:n.305+222_305+223insTCTAAA
XR_001755741.2:n.458+222_458+223insTCTAAA
XR_002958809.1:n.229+222_229+223insTCTAAA
XR_247289.3:n.458+222_458+223insTCTAAA
XR_247290.4:n.458+222_458+223insTCTAAA
NM_001272071.2:c.179+222_179+223insTCTAAA MANE Select	NP_001259000.1:n.179+222_179+223insTCTAAA
NM_001368994.1:c.179+222_179+223insTCTAAA	NP_001355923.1:n.179+222_179+223insTCTAAA
NM_001369007.1:c.179+222_179+223insTCTAAA	NP_001355936.1:n.179+222_179+223insTCTAAA
NM_001369008.1:c.179+222_179+223insTCTAAA	NP_001355937.1:n.179+222_179+223insTCTAAA
NM_003916.5:c.179+222_179+223insTCTAAA	NP_003907.3:n.179+222_179+223insTCTAAA
NR_160932.1:n.305+222_305+223insTCTAAA
NR_160933.1:n.305+222_305+223insTCTAAA