Canonical Allele Identifier: CA2536227453

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332763_23332764insTTGGAAACTTCTGAA , CM000675.2:g.23332763_23332764insTTGGAAACTTCTGAA	GRCh38
NC_000013.10:g.23906902_23906903insTTGGAAACTTCTGAA , CM000675.1:g.23906902_23906903insTTGGAAACTTCTGAA	GRCh37
NC_000013.9:g.22804902_22804903insTTGGAAACTTCTGAA	NCBI36
NG_012342.1:g.105939_105940insTTCAGAAGTTTCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20649_2186-20648insTTCAGAAGTTTCCAA	ENSP00000508399.1:n.2186-20649_2186-20648insTTCAGAAGTTTCCAA
ENST00000682944.1:c.11139_11140insTTCAGAAGTTTCCAA	ENSP00000507173.1:p.Cys3713_Pro3714insPheArgSerPheGln
ENST00000683210.1:c.2185+21021_2185+21022insTTCAGAAGTTTCCAA	ENSP00000506739.1:n.2185+21021_2185+21022insTTCAGAAGTTTCCAA
ENST00000683270.1:c.6446-3280_6446-3279insTTCAGAAGTTTCCAA	ENSP00000507624.1:n.6446-3280_6446-3279insTTCAGAAGTTTCCAA
ENST00000683367.1:c.2177-3280_2177-3279insTTCAGAAGTTTCCAA	ENSP00000507780.1:n.2177-3280_2177-3279insTTCAGAAGTTTCCAA
ENST00000683489.1:c.2292-2812_2292-2811insTTCAGAAGTTTCCAA	ENSP00000508403.1:n.2292-2812_2292-2811insTTCAGAAGTTTCCAA
ENST00000683680.1:c.2319-2812_2319-2811insTTCAGAAGTTTCCAA	ENSP00000507223.1:n.2319-2812_2319-2811insTTCAGAAGTTTCCAA
ENST00000684163.1:c.2204-3280_2204-3279insTTCAGAAGTTTCCAA	ENSP00000508262.1:n.2204-3280_2204-3279insTTCAGAAGTTTCCAA
ENST00000684196.1:n.4543-3280_4543-3279insTTCAGAAGTTTCCAA
ENST00000684325.1:c.2186-11090_2186-11089insTTCAGAAGTTTCCAA	ENSP00000508121.1:n.2186-11090_2186-11089insTTCAGAAGTTTCCAA
ENST00000684385.1:c.2221-3280_2221-3279insTTCAGAAGTTTCCAA	ENSP00000507855.1:n.2221-3280_2221-3279insTTCAGAAGTTTCCAA
ENST00000684497.1:c.2186-10120_2186-10119insTTCAGAAGTTTCCAA	ENSP00000507057.1:n.2186-10120_2186-10119insTTCAGAAGTTTCCAA
ENST00000382292.9:c.11112_11113insTTCAGAAGTTTCCAA MANE Select	ENSP00000371729.3:p.Cys3704_Pro3705insPheArgSerPheGln
ENST00000423156.2:c.2186-3280_2186-3279insTTCAGAAGTTTCCAA	ENSP00000390925.2:n.2186-3280_2186-3279insTTCAGAAGTTTCCAA
ENST00000455470.6:c.2432-3280_2432-3279insTTCAGAAGTTTCCAA	ENSP00000406565.2:n.2432-3280_2432-3279insTTCAGAAGTTTCCAA
ENST00000382292.7:c.11112_11113insTTCAGAAGTTTCCAA	ENSP00000371729.3:p.Cys3704_Pro3705insPheArgSerPheGln
ENST00000382298.7:c.11112_11113insTTCAGAAGTTTCCAA	ENSP00000371735.3:p.Cys3704_Pro3705insPheArgSerPheGln
ENST00000402364.1:c.8862_8863insTTCAGAAGTTTCCAA	ENSP00000385844.1:p.Cys2954_Pro2955insPheArgSerPheGln
ENST00000423156.1:c.1058-3280_1058-3279insTTCAGAAGTTTCCAA	ENSP00000390925.1:n.1058-3280_1058-3279insTTCAGAAGTTTCCAA
ENST00000455470.5:c.2130-3280_2130-3279insTTCAGAAGTTTCCAA
NM_001278055.1:c.10671_10672insTTCAGAAGTTTCCAA	NP_001264984.1:p.Cys3557_Pro3558insPheArgSerPheGln
NM_014363.5:c.11112_11113insTTCAGAAGTTTCCAA	NP_055178.3:p.Cys3704_Pro3705insPheArgSerPheGln
XM_005266338.1:c.11139_11140insTTCAGAAGTTTCCAA	XP_005266395.1:p.Cys3713_Pro3714insPheArgSerPheGln
XM_011535038.1:c.11163_11164insTTCAGAAGTTTCCAA	XP_011533340.1:p.Cys3721_Pro3722insPheArgSerPheGln
XM_011535039.1:c.11130_11131insTTCAGAAGTTTCCAA	XP_011533341.1:p.Cys3710_Pro3711insPheArgSerPheGln
XM_005266338.2:c.11139_11140insTTCAGAAGTTTCCAA	XP_005266395.1:p.Cys3713_Pro3714insPheArgSerPheGln
XM_011535039.2:c.11130_11131insTTCAGAAGTTTCCAA	XP_011533341.1:p.Cys3710_Pro3711insPheArgSerPheGln
XM_017020539.1:c.11103_11104insTTCAGAAGTTTCCAA	XP_016876028.1:p.Cys3701_Pro3702insPheArgSerPheGln
XM_024449337.1:c.11139_11140insTTCAGAAGTTTCCAA	XP_024305105.1:p.Cys3713_Pro3714insPheArgSerPheGln
NM_014363.6:c.11112_11113insTTCAGAAGTTTCCAA MANE Select	NP_055178.3:p.Cys3704_Pro3705insPheArgSerPheGln
NM_001278055.2:c.10671_10672insTTCAGAAGTTTCCAA	NP_001264984.1:p.Cys3557_Pro3558insPheArgSerPheGln