Canonical Allele Identifier: CA912980199

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23907989_23907991del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333850_23333852del , CM000675.2:g.23333850_23333852del	GRCh38
NC_000013.10:g.23907989_23907991del , CM000675.1:g.23907989_23907991del	GRCh37
NC_000013.9:g.22805989_22805991del	NCBI36
NG_012342.1:g.104851_104853del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19933_2185+19935del	ENSP00000508399.1:n.2185+19933_2185+19935...
ENST00000682944.1:c.10051_10053del	ENSP00000507173.1:p.Ser3351del
ENST00000683210.1:c.2185+19933_2185+19935del	ENSP00000506739.1:n.2185+19933_2185+19935...
ENST00000683270.1:c.6445+3570_6445+3572del	ENSP00000507624.1:n.6445+3570_6445+3572de...
ENST00000683367.1:c.2177-4368_2177-4366del	ENSP00000507780.1:n.2177-4368_2177-4366de...
ENST00000683489.1:c.2292-3900_2292-3898del	ENSP00000508403.1:n.2292-3900_2292-3898de...
ENST00000683680.1:c.2319-3900_2319-3898del	ENSP00000507223.1:n.2319-3900_2319-3898de...
ENST00000684163.1:c.2204-4368_2204-4366del	ENSP00000508262.1:n.2204-4368_2204-4366de...
ENST00000684196.1:n.4543-4368_4543-4366del
ENST00000684325.1:c.2186-12178_2186-12176del	ENSP00000508121.1:n.2186-12178_2186-12176...
ENST00000684385.1:c.2221-4368_2221-4366del	ENSP00000507855.1:n.2221-4368_2221-4366de...
ENST00000684497.1:c.2186-11208_2186-11206del	ENSP00000507057.1:n.2186-11208_2186-11206...
ENST00000382292.9:c.10024_10026del MANE Select	ENSP00000371729.3:p.Ser3342del
ENST00000423156.2:c.2186-4368_2186-4366del	ENSP00000390925.2:n.2186-4368_2186-4366de...
ENST00000455470.6:c.2432-4368_2432-4366del	ENSP00000406565.2:n.2432-4368_2432-4366de...
ENST00000382292.7:c.10024_10026del	ENSP00000371729.3:p.Ser3342del
ENST00000382298.7:c.10024_10026del	ENSP00000371735.3:p.Ser3342del
ENST00000402364.1:c.7774_7776del	ENSP00000385844.1:p.Ser2592del
ENST00000423156.1:c.1058-4368_1058-4366del	ENSP00000390925.1:n.1058-4368_1058-4366de...
ENST00000455470.5:c.2130-4368_2130-4366del
NM_001278055.1:c.9583_9585del	NP_001264984.1:p.Ser3195del
NM_014363.5:c.10024_10026del	NP_055178.3:p.Ser3342del
XM_005266338.1:c.10051_10053del	XP_005266395.1:p.Ser3351del
XM_011535038.1:c.10075_10077del	XP_011533340.1:p.Ser3359del
XM_011535039.1:c.10042_10044del	XP_011533341.1:p.Ser3348del
XM_005266338.2:c.10051_10053del	XP_005266395.1:p.Ser3351del
XM_011535039.2:c.10042_10044del	XP_011533341.1:p.Ser3348del
XM_017020539.1:c.10015_10017del	XP_016876028.1:p.Ser3339del
XM_024449337.1:c.10051_10053del	XP_024305105.1:p.Ser3351del
NM_014363.6:c.10024_10026del MANE Select	NP_055178.3:p.Ser3342del
NM_001278055.2:c.9583_9585del	NP_001264984.1:p.Ser3195del