Canonical Allele Identifier: CA5528205

Gene: STOX1

Linked Data

• dbSNP Id: rs755236050
• ExAC: 10:70645188 AAAG / A
• gnomAD v4: 10-68885432-AAAG-A
• MyVariant Identifiers: chr10:g.70645189_70645191del (hg19) ; chr10:g.68885433_68885435del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68885433_68885435del , CM000672.2:g.68885433_68885435del	GRCh38
NC_000010.10:g.70645189_70645191del , CM000672.1:g.70645189_70645191del	GRCh37
NC_000010.9:g.70315195_70315197del	NCBI36
NG_012975.1:g.62896_62898del
NG_012975.2:g.62897_62899del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298596.11:c.1637_1639del MANE Select	ENSP00000298596.6:p.Lys546_Ala547delinsThr
ENST00000642869.1:c.1973_1975del	ENSP00000494558.1:p.Lys658_Ala659delinsThr
ENST00000298596.10:c.1637_1639del	ENSP00000298596.6:p.Lys546_Ala547delinsThr
ENST00000399162.2:c.463+3323_463+3325del	ENSP00000382115.2:n.463+3323_463+3325del
ENST00000399165.8:c.663+974_663+976del	ENSP00000382118.4:n.663+974_663+976del
ENST00000399169.8:c.1637_1639del	ENSP00000382121.4:p.Lys546_Ala547delinsThr
NM_001130159.2:c.663+974_663+976del	NP_001123631.1:n.663+974_663+976del
NM_001130160.2:c.463+3323_463+3325del	NP_001123632.1:n.463+3323_463+3325del
NM_001130161.2:c.1637_1639del	NP_001123633.1:p.Lys546_Ala547delinsThr
NM_152709.4:c.1637_1639del	NP_689922.3:p.Lys546_Ala547delinsThr
XM_011539454.1:c.1307_1309del	XP_011537756.1:p.Lys436_Ala437delinsThr
XM_011539454.2:c.1307_1309del	XP_011537756.1:p.Lys436_Ala437delinsThr
NM_152709.5:c.1637_1639del MANE Select	NP_689922.3:p.Lys546_Ala547delinsThr
NM_001130161.3:c.1637_1639del	NP_001123633.1:p.Lys546_Ala547delinsThr
NM_001130159.3:c.663+974_663+976del	NP_001123631.1:n.663+974_663+976del
NM_001130160.3:c.463+3323_463+3325del	NP_001123632.1:n.463+3323_463+3325del
NM_001130161.4:c.1637_1639del	NP_001123633.1:p.Lys546_Ala547delinsThr