Canonical Allele Identifier: CA1891565010

Gene: SEPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13319726_13319729delinsTGCC , CM000672.2:g.13319726_13319729delinsTGCC	GRCh38
NC_000010.10:g.13361726_13361729delinsTGCC , CM000672.1:g.13361726_13361729delinsTGCC	GRCh37
NC_000010.9:g.13401732_13401735delinsTGCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327347.10:c.965-373_965-370delinsGGCA MANE Select	ENSP00000367893.3:n.965-373_965-370delinsGGCA
ENST00000327347.9:c.965-373_965-370delinsGGCA	ENSP00000367893.3:n.965-373_965-370delinsGGCA
ENST00000378614.8:c.752-373_752-370delinsGGCA	ENSP00000367877.3:n.752-373_752-370delinsGGCA
ENST00000545675.5:c.764-373_764-370delinsGGCA	ENSP00000441119.2:n.764-373_764-370delinsGGCA
NM_001195602.1:c.764-373_764-370delinsGGCA	NP_001182531.1:n.764-373_764-370delinsGGCA
NM_001195604.1:c.752-373_752-370delinsGGCA	NP_001182533.1:n.752-373_752-370delinsGGCA
NM_012247.4:c.965-373_965-370delinsGGCA	NP_036379.2:n.965-373_965-370delinsGGCA
XM_006717433.1:c.959-373_959-370delinsGGCA	XP_006717496.1:n.959-373_959-370delinsGGCA
XM_017015943.2:c.965-373_965-370delinsGGCA	XP_016871432.1:n.965-373_965-370delinsGGCA
XM_017015944.2:c.959-373_959-370delinsGGCA	XP_016871433.1:n.959-373_959-370delinsGGCA
XM_017015945.2:c.764-373_764-370delinsGGCA	XP_016871434.1:n.764-373_764-370delinsGGCA
NM_012247.5:c.965-373_965-370delinsGGCA MANE Select	NP_036379.2:n.965-373_965-370delinsGGCA
NM_001195604.2:c.752-373_752-370delinsGGCA	NP_001182533.1:n.752-373_752-370delinsGGCA
NM_001375769.1:c.959-373_959-370delinsGGCA	NP_001362698.1:n.959-373_959-370delinsGGCA
NR_164738.1:n.1555-373_1555-370delinsGGCA
NM_001195602.2:c.764-373_764-370delinsGGCA	NP_001182531.1:n.764-373_764-370delinsGGCA