Canonical Allele Identifier: CA2417074248
Gene: AP1S2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15851956_15851957delinsTA , CM000685.2:g.15851956_15851957delinsTA GRCh38
NC_000023.10:g.15870079_15870080delinsTA , CM000685.1:g.15870079_15870080delinsTA GRCh37
NC_000023.9:g.15780000_15780001delinsTA NCBI36
NG_009274.1:g.8021_8022delinsTA
NG_009274.2:g.8021_8022delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450644.2:c.179+389_179+390delinsTA ENSP00000389474.2:n.179+389_179+390delinsTA
ENST00000479184.2:c.179+389_179+390delinsTA ENSP00000500850.1:n.179+389_179+390delinsTA
ENST00000545766.7:c.47+389_47+390delinsTA ENSP00000444957.3:n.47+389_47+390delinsTA
ENST00000671830.1:c.179+389_179+390delinsTA ENSP00000500483.1:n.179+389_179+390delinsTA
ENST00000672063.1:c.179+389_179+390delinsTA ENSP00000500737.1:n.179+389_179+390delinsTA
ENST00000672987.1:c.179+389_179+390delinsTA MANE Select ENSP00000500695.1:n.179+389_179+390delinsTA
ENST00000673445.1:c.179+389_179+390delinsTA ENSP00000500798.1:n.179+389_179+390delinsTA
ENST00000673591.1:c.179+389_179+390delinsTA ENSP00000500066.1:n.179+389_179+390delinsTA
ENST00000329235.6:c.179+389_179+390delinsTA ENSP00000328789.2:n.179+389_179+390delinsTA
ENST00000380291.5:c.179+389_179+390delinsTA ENSP00000369645.1:n.179+389_179+390delinsTA
ENST00000450644.1:c.157+389_157+390delinsTA
ENST00000452376.5:c.168+389_168+390delinsTA
ENST00000545766.5:c.179+389_179+390delinsTA ENSP00000444957.2:n.179+389_179+390delinsTA
NM_001272071.1:c.179+389_179+390delinsTA NP_001259000.1:n.179+389_179+390delinsTA
NM_003916.4:c.179+389_179+390delinsTA NP_003907.3:n.179+389_179+390delinsTA
XM_005274614.3:c.305+389_305+390delinsTA XP_005274671.1:n.305+389_305+390delinsTA
XM_011545599.1:c.305+389_305+390delinsTA XP_011543901.1:n.305+389_305+390delinsTA
XR_247289.2:n.458+389_458+390delinsTA
XR_247290.3:n.393+389_393+390delinsTA
XM_017029925.1:c.305+389_305+390delinsTA XP_016885414.1:n.305+389_305+390delinsTA
XM_017029926.2:c.305+389_305+390delinsTA XP_016885415.1:n.305+389_305+390delinsTA
XR_001755741.2:n.458+389_458+390delinsTA
XR_002958809.1:n.229+389_229+390delinsTA
XR_247289.3:n.458+389_458+390delinsTA
XR_247290.4:n.458+389_458+390delinsTA
NM_001272071.2:c.179+389_179+390delinsTA MANE Select NP_001259000.1:n.179+389_179+390delinsTA
NM_001368994.1:c.179+389_179+390delinsTA NP_001355923.1:n.179+389_179+390delinsTA
NM_001369007.1:c.179+389_179+390delinsTA NP_001355936.1:n.179+389_179+390delinsTA
NM_001369008.1:c.179+389_179+390delinsTA NP_001355937.1:n.179+389_179+390delinsTA
NM_003916.5:c.179+389_179+390delinsTA NP_003907.3:n.179+389_179+390delinsTA
NR_160932.1:n.305+389_305+390delinsTA
NR_160933.1:n.305+389_305+390delinsTA