Canonical Allele Identifier: CA661905064
Gene: SEPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1412944375

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13319670_13319671del , CM000672.2:g.13319670_13319671del GRCh38
NC_000010.10:g.13361670_13361671del , CM000672.1:g.13361670_13361671del GRCh37
NC_000010.9:g.13401676_13401677del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000327347.10:c.965-315_965-314del MANE Select ENSP00000367893.3:n.965-315_965-314del
ENST00000327347.9:c.965-315_965-314del ENSP00000367893.3:n.965-315_965-314del
ENST00000378614.8:c.752-315_752-314del ENSP00000367877.3:n.752-315_752-314del
ENST00000545675.5:c.764-315_764-314del ENSP00000441119.2:n.764-315_764-314del
NM_001195602.1:c.764-315_764-314del NP_001182531.1:n.764-315_764-314del
NM_001195604.1:c.752-315_752-314del NP_001182533.1:n.752-315_752-314del
NM_012247.4:c.965-315_965-314del NP_036379.2:n.965-315_965-314del
XM_006717433.1:c.959-315_959-314del XP_006717496.1:n.959-315_959-314del
XM_017015943.2:c.965-315_965-314del XP_016871432.1:n.965-315_965-314del
XM_017015944.2:c.959-315_959-314del XP_016871433.1:n.959-315_959-314del
XM_017015945.2:c.764-315_764-314del XP_016871434.1:n.764-315_764-314del
NM_012247.5:c.965-315_965-314del MANE Select NP_036379.2:n.965-315_965-314del
NM_001195604.2:c.752-315_752-314del NP_001182533.1:n.752-315_752-314del
NM_001375769.1:c.959-315_959-314del NP_001362698.1:n.959-315_959-314del
NR_164738.1:n.1555-315_1555-314del
NM_001195602.2:c.764-315_764-314del NP_001182531.1:n.764-315_764-314del