Canonical Allele Identifier: CA925080704

Gene: SEPHS1

Linked Data

• dbSNP Id: rs1833047152
• gnomAD v3: 10-13319787-C-CA
• gnomAD v4: 10-13319787-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13319787_13319788insA , CM000672.2:g.13319787_13319788insA	GRCh38
NC_000010.10:g.13361787_13361788insA , CM000672.1:g.13361787_13361788insA	GRCh37
NC_000010.9:g.13401793_13401794insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327347.10:c.965-432_965-431insT MANE Select	ENSP00000367893.3:n.965-432_965-431insT
ENST00000327347.9:c.965-432_965-431insT	ENSP00000367893.3:n.965-432_965-431insT
ENST00000378614.8:c.752-432_752-431insT	ENSP00000367877.3:n.752-432_752-431insT
ENST00000545675.5:c.764-432_764-431insT	ENSP00000441119.2:n.764-432_764-431insT
NM_001195602.1:c.764-432_764-431insT	NP_001182531.1:n.764-432_764-431insT
NM_001195604.1:c.752-432_752-431insT	NP_001182533.1:n.752-432_752-431insT
NM_012247.4:c.965-432_965-431insT	NP_036379.2:n.965-432_965-431insT
XM_006717433.1:c.959-432_959-431insT	XP_006717496.1:n.959-432_959-431insT
XM_017015943.2:c.965-432_965-431insT	XP_016871432.1:n.965-432_965-431insT
XM_017015944.2:c.959-432_959-431insT	XP_016871433.1:n.959-432_959-431insT
XM_017015945.2:c.764-432_764-431insT	XP_016871434.1:n.764-432_764-431insT
NM_012247.5:c.965-432_965-431insT MANE Select	NP_036379.2:n.965-432_965-431insT
NM_001195604.2:c.752-432_752-431insT	NP_001182533.1:n.752-432_752-431insT
NM_001375769.1:c.959-432_959-431insT	NP_001362698.1:n.959-432_959-431insT
NR_164738.1:n.1555-432_1555-431insT
NM_001195602.2:c.764-432_764-431insT	NP_001182531.1:n.764-432_764-431insT