Canonical Allele Identifier: CA2078627789

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337593_23337594delinsTA , CM000675.2:g.23337593_23337594delinsTA	GRCh38
NC_000013.10:g.23911732_23911733delinsTA , CM000675.1:g.23911732_23911733delinsTA	GRCh37
NC_000013.9:g.22809732_22809733delinsTA	NCBI36
NG_012342.1:g.101109_101110delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16191_2185+16192delinsTA	ENSP00000508399.1:n.2185+16191_2185+16192delinsTA
ENST00000682944.1:c.6309_6310delinsTA	ENSP00000507173.1:p.Val2103=
ENST00000683210.1:c.2185+16191_2185+16192delinsTA	ENSP00000506739.1:n.2185+16191_2185+16192delinsTA
ENST00000683270.1:c.6273_6274delinsTA	ENSP00000507624.1:p.Val2091=
ENST00000683367.1:c.2177-8110_2177-8109delinsTA	ENSP00000507780.1:n.2177-8110_2177-8109delinsTA
ENST00000683489.1:c.2291+3991_2291+3992delinsTA	ENSP00000508403.1:n.2291+3991_2291+3992delinsTA
ENST00000683680.1:c.2318+3991_2318+3992delinsTA	ENSP00000507223.1:n.2318+3991_2318+3992delinsTA
ENST00000684163.1:c.2204-8110_2204-8109delinsTA	ENSP00000508262.1:n.2204-8110_2204-8109delinsTA
ENST00000684196.1:n.4543-8110_4543-8109delinsTA
ENST00000684325.1:c.2186-15920_2186-15919delinsTA	ENSP00000508121.1:n.2186-15920_2186-15919delinsTA
ENST00000684385.1:c.2221-8110_2221-8109delinsTA	ENSP00000507855.1:n.2221-8110_2221-8109delinsTA
ENST00000684497.1:c.2186-14950_2186-14949delinsTA	ENSP00000507057.1:n.2186-14950_2186-14949delinsTA
ENST00000382292.9:c.6282_6283delinsTA MANE Select	ENSP00000371729.3:p.Val2094=
ENST00000423156.2:c.2186-8110_2186-8109delinsTA	ENSP00000390925.2:n.2186-8110_2186-8109delinsTA
ENST00000455470.6:c.2431+3851_2431+3852delinsTA	ENSP00000406565.2:n.2431+3851_2431+3852delinsTA
ENST00000382292.7:c.6282_6283delinsTA	ENSP00000371729.3:p.Val2094=
ENST00000382298.7:c.6282_6283delinsTA	ENSP00000371735.3:p.Val2094=
ENST00000402364.1:c.4032_4033delinsTA	ENSP00000385844.1:p.Val1344=
ENST00000423156.1:c.1058-8110_1058-8109delinsTA	ENSP00000390925.1:n.1058-8110_1058-8109delinsTA
ENST00000455470.5:c.2129+3851_2129+3852delinsTA
NM_001278055.1:c.5841_5842delinsTA	NP_001264984.1:p.Val1947=
NM_014363.5:c.6282_6283delinsTA	NP_055178.3:p.Val2094=
XM_005266338.1:c.6309_6310delinsTA	XP_005266395.1:p.Val2103=
XM_011535038.1:c.6333_6334delinsTA	XP_011533340.1:p.Val2111=
XM_011535039.1:c.6300_6301delinsTA	XP_011533341.1:p.Val2100=
XM_005266338.2:c.6309_6310delinsTA	XP_005266395.1:p.Val2103=
XM_011535039.2:c.6300_6301delinsTA	XP_011533341.1:p.Val2100=
XM_017020539.1:c.6273_6274delinsTA	XP_016876028.1:p.Val2091=
XM_024449337.1:c.6309_6310delinsTA	XP_024305105.1:p.Val2103=
NM_014363.6:c.6282_6283delinsTA MANE Select	NP_055178.3:p.Val2094=
NM_001278055.2:c.5841_5842delinsTA	NP_001264984.1:p.Val1947=