Canonical Allele Identifier: CA912980198

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23907964_23907965del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333825_23333826del , CM000675.2:g.23333825_23333826del	GRCh38
NC_000013.10:g.23907964_23907965del , CM000675.1:g.23907964_23907965del	GRCh37
NC_000013.9:g.22805964_22805965del	NCBI36
NG_012342.1:g.104877_104878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19959_2185+19960del	ENSP00000508399.1:n.2185+19959_2185+19960del
ENST00000682944.1:c.10077_10078del	ENSP00000507173.1:p.Cys3359Ter
ENST00000683210.1:c.2185+19959_2185+19960del	ENSP00000506739.1:n.2185+19959_2185+19960del
ENST00000683270.1:c.6445+3596_6445+3597del	ENSP00000507624.1:n.6445+3596_6445+3597del
ENST00000683367.1:c.2177-4342_2177-4341del	ENSP00000507780.1:n.2177-4342_2177-4341del
ENST00000683489.1:c.2292-3874_2292-3873del	ENSP00000508403.1:n.2292-3874_2292-3873del
ENST00000683680.1:c.2319-3874_2319-3873del	ENSP00000507223.1:n.2319-3874_2319-3873del
ENST00000684163.1:c.2204-4342_2204-4341del	ENSP00000508262.1:n.2204-4342_2204-4341del
ENST00000684196.1:n.4543-4342_4543-4341del
ENST00000684325.1:c.2186-12152_2186-12151del	ENSP00000508121.1:n.2186-12152_2186-12151del
ENST00000684385.1:c.2221-4342_2221-4341del	ENSP00000507855.1:n.2221-4342_2221-4341del
ENST00000684497.1:c.2186-11182_2186-11181del	ENSP00000507057.1:n.2186-11182_2186-11181del
ENST00000382292.9:c.10050_10051del MANE Select	ENSP00000371729.3:p.Cys3350Ter
ENST00000423156.2:c.2186-4342_2186-4341del	ENSP00000390925.2:n.2186-4342_2186-4341del
ENST00000455470.6:c.2432-4342_2432-4341del	ENSP00000406565.2:n.2432-4342_2432-4341del
ENST00000382292.7:c.10050_10051del	ENSP00000371729.3:p.Cys3350Ter
ENST00000382298.7:c.10050_10051del	ENSP00000371735.3:p.Cys3350Ter
ENST00000402364.1:c.7800_7801del	ENSP00000385844.1:p.Cys2600Ter
ENST00000423156.1:c.1058-4342_1058-4341del	ENSP00000390925.1:n.1058-4342_1058-4341del
ENST00000455470.5:c.2130-4342_2130-4341del
NM_001278055.1:c.9609_9610del	NP_001264984.1:p.Cys3203Ter
NM_014363.5:c.10050_10051del	NP_055178.3:p.Cys3350Ter
XM_005266338.1:c.10077_10078del	XP_005266395.1:p.Cys3359Ter
XM_011535038.1:c.10101_10102del	XP_011533340.1:p.Cys3367Ter
XM_011535039.1:c.10068_10069del	XP_011533341.1:p.Cys3356Ter
XM_005266338.2:c.10077_10078del	XP_005266395.1:p.Cys3359Ter
XM_011535039.2:c.10068_10069del	XP_011533341.1:p.Cys3356Ter
XM_017020539.1:c.10041_10042del	XP_016876028.1:p.Cys3347Ter
XM_024449337.1:c.10077_10078del	XP_024305105.1:p.Cys3359Ter
NM_014363.6:c.10050_10051del MANE Select	NP_055178.3:p.Cys3350Ter
NM_001278055.2:c.9609_9610del	NP_001264984.1:p.Cys3203Ter