Canonical Allele Identifier: CA2078627904

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337712_23337713delinsTG , CM000675.2:g.23337712_23337713delinsTG	GRCh38
NC_000013.10:g.23911851_23911852delinsTG , CM000675.1:g.23911851_23911852delinsTG	GRCh37
NC_000013.9:g.22809851_22809852delinsTG	NCBI36
NG_012342.1:g.100990_100991delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16072_2185+16073delinsCA	ENSP00000508399.1:n.2185+16072_2185+16073delinsCA
ENST00000682944.1:c.6190_6191delinsCA	ENSP00000507173.1:p.Gln2064=
ENST00000683210.1:c.2185+16072_2185+16073delinsCA	ENSP00000506739.1:n.2185+16072_2185+16073delinsCA
ENST00000683270.1:c.6154_6155delinsCA	ENSP00000507624.1:p.Gln2052=
ENST00000683367.1:c.2177-8229_2177-8228delinsCA	ENSP00000507780.1:n.2177-8229_2177-8228delinsCA
ENST00000683489.1:c.2291+3872_2291+3873delinsCA	ENSP00000508403.1:n.2291+3872_2291+3873delinsCA
ENST00000683680.1:c.2318+3872_2318+3873delinsCA	ENSP00000507223.1:n.2318+3872_2318+3873delinsCA
ENST00000684163.1:c.2204-8229_2204-8228delinsCA	ENSP00000508262.1:n.2204-8229_2204-8228delinsCA
ENST00000684196.1:n.4543-8229_4543-8228delinsCA
ENST00000684325.1:c.2186-16039_2186-16038delinsCA	ENSP00000508121.1:n.2186-16039_2186-16038delinsCA
ENST00000684385.1:c.2221-8229_2221-8228delinsCA	ENSP00000507855.1:n.2221-8229_2221-8228delinsCA
ENST00000684497.1:c.2186-15069_2186-15068delinsCA	ENSP00000507057.1:n.2186-15069_2186-15068delinsCA
ENST00000382292.9:c.6163_6164delinsCA MANE Select	ENSP00000371729.3:p.Gln2055=
ENST00000423156.2:c.2186-8229_2186-8228delinsCA	ENSP00000390925.2:n.2186-8229_2186-8228delinsCA
ENST00000455470.6:c.2431+3732_2431+3733delinsCA	ENSP00000406565.2:n.2431+3732_2431+3733delinsCA
ENST00000382292.7:c.6163_6164delinsCA	ENSP00000371729.3:p.Gln2055=
ENST00000382298.7:c.6163_6164delinsCA	ENSP00000371735.3:p.Gln2055=
ENST00000402364.1:c.3913_3914delinsCA	ENSP00000385844.1:p.Gln1305=
ENST00000423156.1:c.1058-8229_1058-8228delinsCA	ENSP00000390925.1:n.1058-8229_1058-8228delinsCA
ENST00000455470.5:c.2129+3732_2129+3733delinsCA
NM_001278055.1:c.5722_5723delinsCA	NP_001264984.1:p.Gln1908=
NM_014363.5:c.6163_6164delinsCA	NP_055178.3:p.Gln2055=
XM_005266338.1:c.6190_6191delinsCA	XP_005266395.1:p.Gln2064=
XM_011535038.1:c.6214_6215delinsCA	XP_011533340.1:p.Gln2072=
XM_011535039.1:c.6181_6182delinsCA	XP_011533341.1:p.Gln2061=
XM_005266338.2:c.6190_6191delinsCA	XP_005266395.1:p.Gln2064=
XM_011535039.2:c.6181_6182delinsCA	XP_011533341.1:p.Gln2061=
XM_017020539.1:c.6154_6155delinsCA	XP_016876028.1:p.Gln2052=
XM_024449337.1:c.6190_6191delinsCA	XP_024305105.1:p.Gln2064=
NM_014363.6:c.6163_6164delinsCA MANE Select	NP_055178.3:p.Gln2055=
NM_001278055.2:c.5722_5723delinsCA	NP_001264984.1:p.Gln1908=