Canonical Allele Identifier: CA2575369533

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339160_23339162del , CM000675.2:g.23339160_23339162del	GRCh38
NC_000013.10:g.23913299_23913301del , CM000675.1:g.23913299_23913301del	GRCh37
NC_000013.9:g.22811299_22811301del	NCBI36
NG_012342.1:g.99543_99545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14625_2185+14627del	ENSP00000508399.1:n.2185+14625_2185+14627del
ENST00000682944.1:c.4743_4745del	ENSP00000507173.1:p.Ile1581del
ENST00000683210.1:c.2185+14625_2185+14627del	ENSP00000506739.1:n.2185+14625_2185+14627del
ENST00000683270.1:c.4707_4709del	ENSP00000507624.1:p.Ile1569del
ENST00000683367.1:c.2177-9676_2177-9674del	ENSP00000507780.1:n.2177-9676_2177-9674del
ENST00000683489.1:c.2291+2425_2291+2427del	ENSP00000508403.1:n.2291+2425_2291+2427del
ENST00000683680.1:c.2318+2425_2318+2427del	ENSP00000507223.1:n.2318+2425_2318+2427del
ENST00000684163.1:c.2203+7651_2203+7653del	ENSP00000508262.1:n.2203+7651_2203+7653del
ENST00000684196.1:n.4543-9676_4543-9674del
ENST00000684325.1:c.2185+14625_2185+14627del	ENSP00000508121.1:n.2185+14625_2185+14627del
ENST00000684385.1:c.2220+7651_2220+7653del	ENSP00000507855.1:n.2220+7651_2220+7653del
ENST00000684497.1:c.2185+14625_2185+14627del	ENSP00000507057.1:n.2185+14625_2185+14627del
ENST00000382292.9:c.4716_4718del MANE Select	ENSP00000371729.3:p.Ile1572del
ENST00000423156.2:c.2186-9676_2186-9674del	ENSP00000390925.2:n.2186-9676_2186-9674del
ENST00000455470.6:c.2431+2285_2431+2287del	ENSP00000406565.2:n.2431+2285_2431+2287del
ENST00000382292.7:c.4716_4718del	ENSP00000371729.3:p.Ile1572del
ENST00000382298.7:c.4716_4718del	ENSP00000371735.3:p.Ile1572del
ENST00000402364.1:c.2466_2468del	ENSP00000385844.1:p.Ile822del
ENST00000423156.1:c.1058-9676_1058-9674del	ENSP00000390925.1:n.1058-9676_1058-9674del
ENST00000455470.5:c.2129+2285_2129+2287del
NM_001278055.1:c.4275_4277del	NP_001264984.1:p.Ile1425del
NM_014363.5:c.4716_4718del	NP_055178.3:p.Ile1572del
XM_005266338.1:c.4743_4745del	XP_005266395.1:p.Ile1581del
XM_011535038.1:c.4767_4769del	XP_011533340.1:p.Ile1589del
XM_011535039.1:c.4734_4736del	XP_011533341.1:p.Ile1578del
XM_005266338.2:c.4743_4745del	XP_005266395.1:p.Ile1581del
XM_011535039.2:c.4734_4736del	XP_011533341.1:p.Ile1578del
XM_017020539.1:c.4707_4709del	XP_016876028.1:p.Ile1569del
XM_024449337.1:c.4743_4745del	XP_024305105.1:p.Ile1581del
NM_014363.6:c.4716_4718del MANE Select	NP_055178.3:p.Ile1572del
NM_001278055.2:c.4275_4277del	NP_001264984.1:p.Ile1425del