Canonical Allele Identifier: CA2786698105
Gene: SEPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13319771_13319772insCGGGCCAAAATTTATTTCTC , CM000672.2:g.13319771_13319772insCGGGCCAAAATTTATTTCTC GRCh38
NC_000010.10:g.13361771_13361772insCGGGCCAAAATTTATTTCTC , CM000672.1:g.13361771_13361772insCGGGCCAAAATTTATTTCTC GRCh37
NC_000010.9:g.13401777_13401778insCGGGCCAAAATTTATTTCTC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000327347.10:c.965-415_965-414insAGAAATAAATTTTGGCCCGG MANE Select ENSP00000367893.3:n.965-415_965-414insAGAAATAAATTTTGGCCCGG
ENST00000327347.9:c.965-415_965-414insAGAAATAAATTTTGGCCCGG ENSP00000367893.3:n.965-415_965-414insAGAAATAAATTTTGGCCCGG
ENST00000378614.8:c.752-415_752-414insAGAAATAAATTTTGGCCCGG ENSP00000367877.3:n.752-415_752-414insAGAAATAAATTTTGGCCCGG
ENST00000545675.5:c.764-415_764-414insAGAAATAAATTTTGGCCCGG ENSP00000441119.2:n.764-415_764-414insAGAAATAAATTTTGGCCCGG
NM_001195602.1:c.764-415_764-414insAGAAATAAATTTTGGCCCGG NP_001182531.1:n.764-415_764-414insAGAAATAAATTTTGGCCCGG
NM_001195604.1:c.752-415_752-414insAGAAATAAATTTTGGCCCGG NP_001182533.1:n.752-415_752-414insAGAAATAAATTTTGGCCCGG
NM_012247.4:c.965-415_965-414insAGAAATAAATTTTGGCCCGG NP_036379.2:n.965-415_965-414insAGAAATAAATTTTGGCCCGG
XM_006717433.1:c.959-415_959-414insAGAAATAAATTTTGGCCCGG XP_006717496.1:n.959-415_959-414insAGAAATAAATTTTGGCCCGG
XM_017015943.2:c.965-415_965-414insAGAAATAAATTTTGGCCCGG XP_016871432.1:n.965-415_965-414insAGAAATAAATTTTGGCCCGG
XM_017015944.2:c.959-415_959-414insAGAAATAAATTTTGGCCCGG XP_016871433.1:n.959-415_959-414insAGAAATAAATTTTGGCCCGG
XM_017015945.2:c.764-415_764-414insAGAAATAAATTTTGGCCCGG XP_016871434.1:n.764-415_764-414insAGAAATAAATTTTGGCCCGG
NM_012247.5:c.965-415_965-414insAGAAATAAATTTTGGCCCGG MANE Select NP_036379.2:n.965-415_965-414insAGAAATAAATTTTGGCCCGG
NM_001195604.2:c.752-415_752-414insAGAAATAAATTTTGGCCCGG NP_001182533.1:n.752-415_752-414insAGAAATAAATTTTGGCCCGG
NM_001375769.1:c.959-415_959-414insAGAAATAAATTTTGGCCCGG NP_001362698.1:n.959-415_959-414insAGAAATAAATTTTGGCCCGG
NR_164738.1:n.1555-415_1555-414insAGAAATAAATTTTGGCCCGG
NM_001195602.2:c.764-415_764-414insAGAAATAAATTTTGGCCCGG NP_001182531.1:n.764-415_764-414insAGAAATAAATTTTGGCCCGG