Canonical Allele Identifier: CA2078628398

Gene: SACS

Linked Data

• dbSNP Id: rs1868813078

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337964_23337965insGGGT , CM000675.2:g.23337964_23337965insGGGT	GRCh38
NC_000013.10:g.23912103_23912104insGGGT , CM000675.1:g.23912103_23912104insGGGT	GRCh37
NC_000013.9:g.22810103_22810104insGGGT	NCBI36
NG_012342.1:g.100739_100740insCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15821_2185+15822insCCCA	ENSP00000508399.1:n.2185+15821_2185+15822insCCCA
ENST00000682944.1:c.5939_5940insCCCA	ENSP00000507173.1:p.Lys1980AsnfsTer12
ENST00000683210.1:c.2185+15821_2185+15822insCCCA	ENSP00000506739.1:n.2185+15821_2185+15822insCCCA
ENST00000683270.1:c.5903_5904insCCCA	ENSP00000507624.1:p.Lys1968AsnfsTer12
ENST00000683367.1:c.2177-8480_2177-8479insCCCA	ENSP00000507780.1:n.2177-8480_2177-8479insCCCA
ENST00000683489.1:c.2291+3621_2291+3622insCCCA	ENSP00000508403.1:n.2291+3621_2291+3622insCCCA
ENST00000683680.1:c.2318+3621_2318+3622insCCCA	ENSP00000507223.1:n.2318+3621_2318+3622insCCCA
ENST00000684163.1:c.2204-8480_2204-8479insCCCA	ENSP00000508262.1:n.2204-8480_2204-8479insCCCA
ENST00000684196.1:n.4543-8480_4543-8479insCCCA
ENST00000684325.1:c.2185+15821_2185+15822insCCCA	ENSP00000508121.1:n.2185+15821_2185+15822insCCCA
ENST00000684385.1:c.2221-8480_2221-8479insCCCA	ENSP00000507855.1:n.2221-8480_2221-8479insCCCA
ENST00000684497.1:c.2186-15320_2186-15319insCCCA	ENSP00000507057.1:n.2186-15320_2186-15319insCCCA
ENST00000382292.9:c.5912_5913insCCCA MANE Select	ENSP00000371729.3:p.Lys1971AsnfsTer12
ENST00000423156.2:c.2186-8480_2186-8479insCCCA	ENSP00000390925.2:n.2186-8480_2186-8479insCCCA
ENST00000455470.6:c.2431+3481_2431+3482insCCCA	ENSP00000406565.2:n.2431+3481_2431+3482insCCCA
ENST00000382292.7:c.5912_5913insCCCA	ENSP00000371729.3:p.Lys1971AsnfsTer12
ENST00000382298.7:c.5912_5913insCCCA	ENSP00000371735.3:p.Lys1971AsnfsTer12
ENST00000402364.1:c.3662_3663insCCCA	ENSP00000385844.1:p.Lys1221AsnfsTer12
ENST00000423156.1:c.1058-8480_1058-8479insCCCA	ENSP00000390925.1:n.1058-8480_1058-8479insCCCA
ENST00000455470.5:c.2129+3481_2129+3482insCCCA
NM_001278055.1:c.5471_5472insCCCA	NP_001264984.1:p.Lys1824AsnfsTer12
NM_014363.5:c.5912_5913insCCCA	NP_055178.3:p.Lys1971AsnfsTer12
XM_005266338.1:c.5939_5940insCCCA	XP_005266395.1:p.Lys1980AsnfsTer12
XM_011535038.1:c.5963_5964insCCCA	XP_011533340.1:p.Lys1988AsnfsTer12
XM_011535039.1:c.5930_5931insCCCA	XP_011533341.1:p.Lys1977AsnfsTer12
XM_005266338.2:c.5939_5940insCCCA	XP_005266395.1:p.Lys1980AsnfsTer12
XM_011535039.2:c.5930_5931insCCCA	XP_011533341.1:p.Lys1977AsnfsTer12
XM_017020539.1:c.5903_5904insCCCA	XP_016876028.1:p.Lys1968AsnfsTer12
XM_024449337.1:c.5939_5940insCCCA	XP_024305105.1:p.Lys1980AsnfsTer12
NM_014363.6:c.5912_5913insCCCA MANE Select	NP_055178.3:p.Lys1971AsnfsTer12
NM_001278055.2:c.5471_5472insCCCA	NP_001264984.1:p.Lys1824AsnfsTer12