Canonical Allele Identifier: CA2078627196

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337252_23337253delinsTG , CM000675.2:g.23337252_23337253delinsTG	GRCh38
NC_000013.10:g.23911391_23911392delinsTG , CM000675.1:g.23911391_23911392delinsTG	GRCh37
NC_000013.9:g.22809391_22809392delinsTG	NCBI36
NG_012342.1:g.101450_101451delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16532_2185+16533delinsCA	ENSP00000508399.1:n.2185+16532_2185+16533...
ENST00000682944.1:c.6650_6651delinsCA	ENSP00000507173.1:p.Ala2217=
ENST00000683210.1:c.2185+16532_2185+16533delinsCA	ENSP00000506739.1:n.2185+16532_2185+16533...
ENST00000683270.1:c.6445+169_6445+170delinsCA	ENSP00000507624.1:n.6445+169_6445+170deli...
ENST00000683367.1:c.2177-7769_2177-7768delinsCA	ENSP00000507780.1:n.2177-7769_2177-7768de...
ENST00000683489.1:c.2291+4332_2291+4333delinsCA	ENSP00000508403.1:n.2291+4332_2291+4333de...
ENST00000683680.1:c.2318+4332_2318+4333delinsCA	ENSP00000507223.1:n.2318+4332_2318+4333de...
ENST00000684163.1:c.2204-7769_2204-7768delinsCA	ENSP00000508262.1:n.2204-7769_2204-7768de...
ENST00000684196.1:n.4543-7769_4543-7768delinsCA
ENST00000684325.1:c.2186-15579_2186-15578delinsCA	ENSP00000508121.1:n.2186-15579_2186-15578...
ENST00000684385.1:c.2221-7769_2221-7768delinsCA	ENSP00000507855.1:n.2221-7769_2221-7768de...
ENST00000684497.1:c.2186-14609_2186-14608delinsCA	ENSP00000507057.1:n.2186-14609_2186-14608...
ENST00000382292.9:c.6623_6624delinsCA MANE Select	ENSP00000371729.3:p.Ala2208=
ENST00000423156.2:c.2186-7769_2186-7768delinsCA	ENSP00000390925.2:n.2186-7769_2186-7768de...
ENST00000455470.6:c.2431+4192_2431+4193delinsCA	ENSP00000406565.2:n.2431+4192_2431+4193de...
ENST00000382292.7:c.6623_6624delinsCA	ENSP00000371729.3:p.Ala2208=
ENST00000382298.7:c.6623_6624delinsCA	ENSP00000371735.3:p.Ala2208=
ENST00000402364.1:c.4373_4374delinsCA	ENSP00000385844.1:p.Ala1458=
ENST00000423156.1:c.1058-7769_1058-7768delinsCA	ENSP00000390925.1:n.1058-7769_1058-7768de...
ENST00000455470.5:c.2129+4192_2129+4193delinsCA
NM_001278055.1:c.6182_6183delinsCA	NP_001264984.1:p.Ala2061=
NM_014363.5:c.6623_6624delinsCA	NP_055178.3:p.Ala2208=
XM_005266338.1:c.6650_6651delinsCA	XP_005266395.1:p.Ala2217=
XM_011535038.1:c.6674_6675delinsCA	XP_011533340.1:p.Ala2225=
XM_011535039.1:c.6641_6642delinsCA	XP_011533341.1:p.Ala2214=
XM_005266338.2:c.6650_6651delinsCA	XP_005266395.1:p.Ala2217=
XM_011535039.2:c.6641_6642delinsCA	XP_011533341.1:p.Ala2214=
XM_017020539.1:c.6614_6615delinsCA	XP_016876028.1:p.Ala2205=
XM_024449337.1:c.6650_6651delinsCA	XP_024305105.1:p.Ala2217=
NM_014363.6:c.6623_6624delinsCA MANE Select	NP_055178.3:p.Ala2208=
NM_001278055.2:c.6182_6183delinsCA	NP_001264984.1:p.Ala2061=