Canonical Allele Identifier: CA2417074231

Gene: AP1S2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15851900_15851904delinsCGTGA , CM000685.2:g.15851900_15851904delinsCGTGA	GRCh38
NC_000023.10:g.15870023_15870027delinsCGTGA , CM000685.1:g.15870023_15870027delinsCGTGA	GRCh37
NC_000023.9:g.15779944_15779948delinsCGTGA	NCBI36
NG_009274.1:g.8074_8078delinsTCACG
NG_009274.2:g.8074_8078delinsTCACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.179+442_179+446delinsTCACG	ENSP00000389474.2:n.179+442_179+446delinsTCACG
ENST00000479184.2:c.179+442_179+446delinsTCACG	ENSP00000500850.1:n.179+442_179+446delinsTCACG
ENST00000545766.7:c.47+442_47+446delinsTCACG	ENSP00000444957.3:n.47+442_47+446delinsTCACG
ENST00000671830.1:c.179+442_179+446delinsTCACG	ENSP00000500483.1:n.179+442_179+446delinsTCACG
ENST00000672063.1:c.179+442_179+446delinsTCACG	ENSP00000500737.1:n.179+442_179+446delinsTCACG
ENST00000672987.1:c.179+442_179+446delinsTCACG MANE Select	ENSP00000500695.1:n.179+442_179+446delinsTCACG
ENST00000673445.1:c.179+442_179+446delinsTCACG	ENSP00000500798.1:n.179+442_179+446delinsTCACG
ENST00000673591.1:c.179+442_179+446delinsTCACG	ENSP00000500066.1:n.179+442_179+446delinsTCACG
ENST00000329235.6:c.179+442_179+446delinsTCACG	ENSP00000328789.2:n.179+442_179+446delinsTCACG
ENST00000380291.5:c.179+442_179+446delinsTCACG	ENSP00000369645.1:n.179+442_179+446delinsTCACG
ENST00000450644.1:c.157+442_157+446delinsTCACG
ENST00000452376.5:c.168+442_168+446delinsTCACG
ENST00000545766.5:c.179+442_179+446delinsTCACG	ENSP00000444957.2:n.179+442_179+446delinsTCACG
NM_001272071.1:c.179+442_179+446delinsTCACG	NP_001259000.1:n.179+442_179+446delinsTCACG
NM_003916.4:c.179+442_179+446delinsTCACG	NP_003907.3:n.179+442_179+446delinsTCACG
XM_005274614.3:c.305+442_305+446delinsTCACG	XP_005274671.1:n.305+442_305+446delinsTCACG
XM_011545599.1:c.305+442_305+446delinsTCACG	XP_011543901.1:n.305+442_305+446delinsTCACG
XR_247289.2:n.458+442_458+446delinsTCACG
XR_247290.3:n.393+442_393+446delinsTCACG
XM_017029925.1:c.305+442_305+446delinsTCACG	XP_016885414.1:n.305+442_305+446delinsTCACG
XM_017029926.2:c.305+442_305+446delinsTCACG	XP_016885415.1:n.305+442_305+446delinsTCACG
XR_001755741.2:n.458+442_458+446delinsTCACG
XR_002958809.1:n.229+442_229+446delinsTCACG
XR_247289.3:n.458+442_458+446delinsTCACG
XR_247290.4:n.458+442_458+446delinsTCACG
NM_001272071.2:c.179+442_179+446delinsTCACG MANE Select	NP_001259000.1:n.179+442_179+446delinsTCACG
NM_001368994.1:c.179+442_179+446delinsTCACG	NP_001355923.1:n.179+442_179+446delinsTCACG
NM_001369007.1:c.179+442_179+446delinsTCACG	NP_001355936.1:n.179+442_179+446delinsTCACG
NM_001369008.1:c.179+442_179+446delinsTCACG	NP_001355937.1:n.179+442_179+446delinsTCACG
NM_003916.5:c.179+442_179+446delinsTCACG	NP_003907.3:n.179+442_179+446delinsTCACG
NR_160932.1:n.305+442_305+446delinsTCACG
NR_160933.1:n.305+442_305+446delinsTCACG