Canonical Allele Identifier: CA2798487831

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333523_23333524insTTTTTTTTTTT , CM000675.2:g.23333523_23333524insTTTTTTTTTTT	GRCh38
NC_000013.10:g.23907662_23907663insTTTTTTTTTTT , CM000675.1:g.23907662_23907663insTTTTTTTTTTT	GRCh37
NC_000013.9:g.22805662_22805663insTTTTTTTTTTT	NCBI36
NG_012342.1:g.105180_105181insAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20262_2185+20263insAAAAAAAAAAA	ENSP00000508399.1:n.2185+20262_2185+20263insAAAAAAAAAAA
ENST00000682944.1:c.10380_10381insAAAAAAAAAAA	ENSP00000507173.1:p.Phe3461LysfsTer12
ENST00000683210.1:c.2185+20262_2185+20263insAAAAAAAAAAA	ENSP00000506739.1:n.2185+20262_2185+20263insAAAAAAAAAAA
ENST00000683270.1:c.6445+3899_6445+3900insAAAAAAAAAAA	ENSP00000507624.1:n.6445+3899_6445+3900insAAAAAAAAAAA
ENST00000683367.1:c.2177-4039_2177-4038insAAAAAAAAAAA	ENSP00000507780.1:n.2177-4039_2177-4038insAAAAAAAAAAA
ENST00000683489.1:c.2292-3571_2292-3570insAAAAAAAAAAA	ENSP00000508403.1:n.2292-3571_2292-3570insAAAAAAAAAAA
ENST00000683680.1:c.2319-3571_2319-3570insAAAAAAAAAAA	ENSP00000507223.1:n.2319-3571_2319-3570insAAAAAAAAAAA
ENST00000684163.1:c.2204-4039_2204-4038insAAAAAAAAAAA	ENSP00000508262.1:n.2204-4039_2204-4038insAAAAAAAAAAA
ENST00000684196.1:n.4543-4039_4543-4038insAAAAAAAAAAA
ENST00000684325.1:c.2186-11849_2186-11848insAAAAAAAAAAA	ENSP00000508121.1:n.2186-11849_2186-11848insAAAAAAAAAAA
ENST00000684385.1:c.2221-4039_2221-4038insAAAAAAAAAAA	ENSP00000507855.1:n.2221-4039_2221-4038insAAAAAAAAAAA
ENST00000684497.1:c.2186-10879_2186-10878insAAAAAAAAAAA	ENSP00000507057.1:n.2186-10879_2186-10878insAAAAAAAAAAA
ENST00000382292.9:c.10353_10354insAAAAAAAAAAA MANE Select	ENSP00000371729.3:p.Phe3452LysfsTer12
ENST00000423156.2:c.2186-4039_2186-4038insAAAAAAAAAAA	ENSP00000390925.2:n.2186-4039_2186-4038insAAAAAAAAAAA
ENST00000455470.6:c.2432-4039_2432-4038insAAAAAAAAAAA	ENSP00000406565.2:n.2432-4039_2432-4038insAAAAAAAAAAA
ENST00000382292.7:c.10353_10354insAAAAAAAAAAA	ENSP00000371729.3:p.Phe3452LysfsTer12
ENST00000382298.7:c.10353_10354insAAAAAAAAAAA	ENSP00000371735.3:p.Phe3452LysfsTer12
ENST00000402364.1:c.8103_8104insAAAAAAAAAAA	ENSP00000385844.1:p.Phe2702LysfsTer12
ENST00000423156.1:c.1058-4039_1058-4038insAAAAAAAAAAA	ENSP00000390925.1:n.1058-4039_1058-4038insAAAAAAAAAAA
ENST00000455470.5:c.2130-4039_2130-4038insAAAAAAAAAAA
NM_001278055.1:c.9912_9913insAAAAAAAAAAA	NP_001264984.1:p.Phe3305LysfsTer12
NM_014363.5:c.10353_10354insAAAAAAAAAAA	NP_055178.3:p.Phe3452LysfsTer12
XM_005266338.1:c.10380_10381insAAAAAAAAAAA	XP_005266395.1:p.Phe3461LysfsTer12
XM_011535038.1:c.10404_10405insAAAAAAAAAAA	XP_011533340.1:p.Phe3469LysfsTer12
XM_011535039.1:c.10371_10372insAAAAAAAAAAA	XP_011533341.1:p.Phe3458LysfsTer12
XM_005266338.2:c.10380_10381insAAAAAAAAAAA	XP_005266395.1:p.Phe3461LysfsTer12
XM_011535039.2:c.10371_10372insAAAAAAAAAAA	XP_011533341.1:p.Phe3458LysfsTer12
XM_017020539.1:c.10344_10345insAAAAAAAAAAA	XP_016876028.1:p.Phe3449LysfsTer12
XM_024449337.1:c.10380_10381insAAAAAAAAAAA	XP_024305105.1:p.Phe3461LysfsTer12
NM_014363.6:c.10353_10354insAAAAAAAAAAA MANE Select	NP_055178.3:p.Phe3452LysfsTer12
NM_001278055.2:c.9912_9913insAAAAAAAAAAA	NP_001264984.1:p.Phe3305LysfsTer12