Canonical Allele Identifier: CA925080758

Gene: SEPHS1

Linked Data

• dbSNP Id: rs1833055128
• gnomAD v3: 10-13320007-ACT-A
• gnomAD v4: 10-13320007-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13320013_13320014del , CM000672.2:g.13320013_13320014del	GRCh38
NC_000010.10:g.13362013_13362014del , CM000672.1:g.13362013_13362014del	GRCh37
NC_000010.9:g.13402019_13402020del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327347.10:c.965-653_965-652del MANE Select	ENSP00000367893.3:n.965-653_965-652del
ENST00000327347.9:c.965-653_965-652del	ENSP00000367893.3:n.965-653_965-652del
ENST00000378614.8:c.752-653_752-652del	ENSP00000367877.3:n.752-653_752-652del
ENST00000545675.5:c.764-653_764-652del	ENSP00000441119.2:n.764-653_764-652del
NM_001195602.1:c.764-653_764-652del	NP_001182531.1:n.764-653_764-652del
NM_001195604.1:c.752-653_752-652del	NP_001182533.1:n.752-653_752-652del
NM_012247.4:c.965-653_965-652del	NP_036379.2:n.965-653_965-652del
XM_006717433.1:c.959-653_959-652del	XP_006717496.1:n.959-653_959-652del
XM_017015943.2:c.965-653_965-652del	XP_016871432.1:n.965-653_965-652del
XM_017015944.2:c.959-653_959-652del	XP_016871433.1:n.959-653_959-652del
XM_017015945.2:c.764-653_764-652del	XP_016871434.1:n.764-653_764-652del
NM_012247.5:c.965-653_965-652del MANE Select	NP_036379.2:n.965-653_965-652del
NM_001195604.2:c.752-653_752-652del	NP_001182533.1:n.752-653_752-652del
NM_001375769.1:c.959-653_959-652del	NP_001362698.1:n.959-653_959-652del
NR_164738.1:n.1555-653_1555-652del
NM_001195602.2:c.764-653_764-652del	NP_001182531.1:n.764-653_764-652del