Canonical Allele Identifier: CA203301388

Gene: SEPHS1

Linked Data

• dbSNP Id: rs940480249
• gnomAD v3: 10-13319525-G-GT
• gnomAD v4: 10-13319525-G-GT
• MyVariant Identifiers: chr10:g.13361525_13361526insT (hg19) ; chr10:g.13319525_13319526insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13319526dup , CM000672.2:g.13319526dup	GRCh38
NC_000010.10:g.13361526dup , CM000672.1:g.13361526dup	GRCh37
NC_000010.9:g.13401532dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327347.10:c.965-170dup MANE Select	ENSP00000367893.3:n.965-170dup
ENST00000327347.9:c.965-170dup	ENSP00000367893.3:n.965-170dup
ENST00000378614.8:c.752-170dup	ENSP00000367877.3:n.752-170dup
ENST00000545675.5:c.764-170dup	ENSP00000441119.2:n.764-170dup
NM_001195602.1:c.764-170dup	NP_001182531.1:n.764-170dup
NM_001195604.1:c.752-170dup	NP_001182533.1:n.752-170dup
NM_012247.4:c.965-170dup	NP_036379.2:n.965-170dup
XM_006717433.1:c.959-170dup	XP_006717496.1:n.959-170dup
XM_017015943.2:c.965-170dup	XP_016871432.1:n.965-170dup
XM_017015944.2:c.959-170dup	XP_016871433.1:n.959-170dup
XM_017015945.2:c.764-170dup	XP_016871434.1:n.764-170dup
NM_012247.5:c.965-170dup MANE Select	NP_036379.2:n.965-170dup
NM_001195604.2:c.752-170dup	NP_001182533.1:n.752-170dup
NM_001375769.1:c.959-170dup	NP_001362698.1:n.959-170dup
NR_164738.1:n.1555-170dup
NM_001195602.2:c.764-170dup	NP_001182531.1:n.764-170dup