Canonical Allele Identifier: CA2798500260

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337263_23337264insAAACAATCCG , CM000675.2:g.23337263_23337264insAAACAATCCG	GRCh38
NC_000013.10:g.23911402_23911403insAAACAATCCG , CM000675.1:g.23911402_23911403insAAACAATCCG	GRCh37
NC_000013.9:g.22809402_22809403insAAACAATCCG	NCBI36
NG_012342.1:g.101439_101440insCGGATTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16521_2185+16522insCGGATTGTTT	ENSP00000508399.1:n.2185+16521_2185+16522insCGGATTGTTT
ENST00000682944.1:c.6639_6640insCGGATTGTTT	ENSP00000507173.1:p.Asp2214ArgfsTer4
ENST00000683210.1:c.2185+16521_2185+16522insCGGATTGTTT	ENSP00000506739.1:n.2185+16521_2185+16522insCGGATTGTTT
ENST00000683270.1:c.6445+158_6445+159insCGGATTGTTT	ENSP00000507624.1:n.6445+158_6445+159insCGGATTGTTT
ENST00000683367.1:c.2177-7780_2177-7779insCGGATTGTTT	ENSP00000507780.1:n.2177-7780_2177-7779insCGGATTGTTT
ENST00000683489.1:c.2291+4321_2291+4322insCGGATTGTTT	ENSP00000508403.1:n.2291+4321_2291+4322insCGGATTGTTT
ENST00000683680.1:c.2318+4321_2318+4322insCGGATTGTTT	ENSP00000507223.1:n.2318+4321_2318+4322insCGGATTGTTT
ENST00000684163.1:c.2204-7780_2204-7779insCGGATTGTTT	ENSP00000508262.1:n.2204-7780_2204-7779insCGGATTGTTT
ENST00000684196.1:n.4543-7780_4543-7779insCGGATTGTTT
ENST00000684325.1:c.2186-15590_2186-15589insCGGATTGTTT	ENSP00000508121.1:n.2186-15590_2186-15589insCGGATTGTTT
ENST00000684385.1:c.2221-7780_2221-7779insCGGATTGTTT	ENSP00000507855.1:n.2221-7780_2221-7779insCGGATTGTTT
ENST00000684497.1:c.2186-14620_2186-14619insCGGATTGTTT	ENSP00000507057.1:n.2186-14620_2186-14619insCGGATTGTTT
ENST00000382292.9:c.6612_6613insCGGATTGTTT MANE Select	ENSP00000371729.3:p.Asp2205ArgfsTer4
ENST00000423156.2:c.2186-7780_2186-7779insCGGATTGTTT	ENSP00000390925.2:n.2186-7780_2186-7779insCGGATTGTTT
ENST00000455470.6:c.2431+4181_2431+4182insCGGATTGTTT	ENSP00000406565.2:n.2431+4181_2431+4182insCGGATTGTTT
ENST00000382292.7:c.6612_6613insCGGATTGTTT	ENSP00000371729.3:p.Asp2205ArgfsTer4
ENST00000382298.7:c.6612_6613insCGGATTGTTT	ENSP00000371735.3:p.Asp2205ArgfsTer4
ENST00000402364.1:c.4362_4363insCGGATTGTTT	ENSP00000385844.1:p.Asp1455ArgfsTer4
ENST00000423156.1:c.1058-7780_1058-7779insCGGATTGTTT	ENSP00000390925.1:n.1058-7780_1058-7779insCGGATTGTTT
ENST00000455470.5:c.2129+4181_2129+4182insCGGATTGTTT
NM_001278055.1:c.6171_6172insCGGATTGTTT	NP_001264984.1:p.Asp2058ArgfsTer4
NM_014363.5:c.6612_6613insCGGATTGTTT	NP_055178.3:p.Asp2205ArgfsTer4
XM_005266338.1:c.6639_6640insCGGATTGTTT	XP_005266395.1:p.Asp2214ArgfsTer4
XM_011535038.1:c.6663_6664insCGGATTGTTT	XP_011533340.1:p.Asp2222ArgfsTer4
XM_011535039.1:c.6630_6631insCGGATTGTTT	XP_011533341.1:p.Asp2211ArgfsTer4
XM_005266338.2:c.6639_6640insCGGATTGTTT	XP_005266395.1:p.Asp2214ArgfsTer4
XM_011535039.2:c.6630_6631insCGGATTGTTT	XP_011533341.1:p.Asp2211ArgfsTer4
XM_017020539.1:c.6603_6604insCGGATTGTTT	XP_016876028.1:p.Asp2202ArgfsTer4
XM_024449337.1:c.6639_6640insCGGATTGTTT	XP_024305105.1:p.Asp2214ArgfsTer4
NM_014363.6:c.6612_6613insCGGATTGTTT MANE Select	NP_055178.3:p.Asp2205ArgfsTer4
NM_001278055.2:c.6171_6172insCGGATTGTTT	NP_001264984.1:p.Asp2058ArgfsTer4