Canonical Allele Identifier: CA2078628368

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337956_23337957delinsCT , CM000675.2:g.23337956_23337957delinsCT	GRCh38
NC_000013.10:g.23912095_23912096delinsCT , CM000675.1:g.23912095_23912096delinsCT	GRCh37
NC_000013.9:g.22810095_22810096delinsCT	NCBI36
NG_012342.1:g.100746_100747delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15828_2185+15829delinsAG	ENSP00000508399.1:n.2185+15828_2185+15829delinsAG
ENST00000682944.1:c.5946_5947delinsAG	ENSP00000507173.1:p.Lys1982=
ENST00000683210.1:c.2185+15828_2185+15829delinsAG	ENSP00000506739.1:n.2185+15828_2185+15829delinsAG
ENST00000683270.1:c.5910_5911delinsAG	ENSP00000507624.1:p.Lys1970=
ENST00000683367.1:c.2177-8473_2177-8472delinsAG	ENSP00000507780.1:n.2177-8473_2177-8472delinsAG
ENST00000683489.1:c.2291+3628_2291+3629delinsAG	ENSP00000508403.1:n.2291+3628_2291+3629delinsAG
ENST00000683680.1:c.2318+3628_2318+3629delinsAG	ENSP00000507223.1:n.2318+3628_2318+3629delinsAG
ENST00000684163.1:c.2204-8473_2204-8472delinsAG	ENSP00000508262.1:n.2204-8473_2204-8472delinsAG
ENST00000684196.1:n.4543-8473_4543-8472delinsAG
ENST00000684325.1:c.2185+15828_2185+15829delinsAG	ENSP00000508121.1:n.2185+15828_2185+15829delinsAG
ENST00000684385.1:c.2221-8473_2221-8472delinsAG	ENSP00000507855.1:n.2221-8473_2221-8472delinsAG
ENST00000684497.1:c.2186-15313_2186-15312delinsAG	ENSP00000507057.1:n.2186-15313_2186-15312delinsAG
ENST00000382292.9:c.5919_5920delinsAG MANE Select	ENSP00000371729.3:p.Lys1973=
ENST00000423156.2:c.2186-8473_2186-8472delinsAG	ENSP00000390925.2:n.2186-8473_2186-8472delinsAG
ENST00000455470.6:c.2431+3488_2431+3489delinsAG	ENSP00000406565.2:n.2431+3488_2431+3489delinsAG
ENST00000382292.7:c.5919_5920delinsAG	ENSP00000371729.3:p.Lys1973=
ENST00000382298.7:c.5919_5920delinsAG	ENSP00000371735.3:p.Lys1973=
ENST00000402364.1:c.3669_3670delinsAG	ENSP00000385844.1:p.Lys1223=
ENST00000423156.1:c.1058-8473_1058-8472delinsAG	ENSP00000390925.1:n.1058-8473_1058-8472delinsAG
ENST00000455470.5:c.2129+3488_2129+3489delinsAG
NM_001278055.1:c.5478_5479delinsAG	NP_001264984.1:p.Lys1826=
NM_014363.5:c.5919_5920delinsAG	NP_055178.3:p.Lys1973=
XM_005266338.1:c.5946_5947delinsAG	XP_005266395.1:p.Lys1982=
XM_011535038.1:c.5970_5971delinsAG	XP_011533340.1:p.Lys1990=
XM_011535039.1:c.5937_5938delinsAG	XP_011533341.1:p.Lys1979=
XM_005266338.2:c.5946_5947delinsAG	XP_005266395.1:p.Lys1982=
XM_011535039.2:c.5937_5938delinsAG	XP_011533341.1:p.Lys1979=
XM_017020539.1:c.5910_5911delinsAG	XP_016876028.1:p.Lys1970=
XM_024449337.1:c.5946_5947delinsAG	XP_024305105.1:p.Lys1982=
NM_014363.6:c.5919_5920delinsAG MANE Select	NP_055178.3:p.Lys1973=
NM_001278055.2:c.5478_5479delinsAG	NP_001264984.1:p.Lys1826=