Canonical Allele Identifier: CA2622329047

Gene: SACS

Linked Data

• gnomAD v4: 13-23337955-T-TCTTTCCCTCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337963_23337964insCTTCCTTTCCCT , CM000675.2:g.23337963_23337964insCTTCCTTTCCCT	GRCh38
NC_000013.10:g.23912102_23912103insCTTCCTTTCCCT , CM000675.1:g.23912102_23912103insCTTCCTTTCCCT	GRCh37
NC_000013.9:g.22810102_22810103insCTTCCTTTCCCT	NCBI36
NG_012342.1:g.100747_100748insGAAGAGGGAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15829_2185+15830insGAAGAGGGAAAG	ENSP00000508399.1:n.2185+15829_2185+15830insGAAGAGGGAAAG
ENST00000682944.1:c.5947_5948insGAAGAGGGAAAG	ENSP00000507173.1:p.Lys1982_Glu1983insGlyArgGlyLys
ENST00000683210.1:c.2185+15829_2185+15830insGAAGAGGGAAAG	ENSP00000506739.1:n.2185+15829_2185+15830insGAAGAGGGAAAG
ENST00000683270.1:c.5911_5912insGAAGAGGGAAAG	ENSP00000507624.1:p.Lys1970_Glu1971insGlyArgGlyLys
ENST00000683367.1:c.2177-8472_2177-8471insGAAGAGGGAAAG	ENSP00000507780.1:n.2177-8472_2177-8471insGAAGAGGGAAAG
ENST00000683489.1:c.2291+3629_2291+3630insGAAGAGGGAAAG	ENSP00000508403.1:n.2291+3629_2291+3630insGAAGAGGGAAAG
ENST00000683680.1:c.2318+3629_2318+3630insGAAGAGGGAAAG	ENSP00000507223.1:n.2318+3629_2318+3630insGAAGAGGGAAAG
ENST00000684163.1:c.2204-8472_2204-8471insGAAGAGGGAAAG	ENSP00000508262.1:n.2204-8472_2204-8471insGAAGAGGGAAAG
ENST00000684196.1:n.4543-8472_4543-8471insGAAGAGGGAAAG
ENST00000684325.1:c.2185+15829_2185+15830insGAAGAGGGAAAG	ENSP00000508121.1:n.2185+15829_2185+15830insGAAGAGGGAAAG
ENST00000684385.1:c.2221-8472_2221-8471insGAAGAGGGAAAG	ENSP00000507855.1:n.2221-8472_2221-8471insGAAGAGGGAAAG
ENST00000684497.1:c.2186-15312_2186-15311insGAAGAGGGAAAG	ENSP00000507057.1:n.2186-15312_2186-15311insGAAGAGGGAAAG
ENST00000382292.9:c.5920_5921insGAAGAGGGAAAG MANE Select	ENSP00000371729.3:p.Lys1973_Glu1974insGlyArgGlyLys
ENST00000423156.2:c.2186-8472_2186-8471insGAAGAGGGAAAG	ENSP00000390925.2:n.2186-8472_2186-8471insGAAGAGGGAAAG
ENST00000455470.6:c.2431+3489_2431+3490insGAAGAGGGAAAG	ENSP00000406565.2:n.2431+3489_2431+3490insGAAGAGGGAAAG
ENST00000382292.7:c.5920_5921insGAAGAGGGAAAG	ENSP00000371729.3:p.Lys1973_Glu1974insGlyArgGlyLys
ENST00000382298.7:c.5920_5921insGAAGAGGGAAAG	ENSP00000371735.3:p.Lys1973_Glu1974insGlyArgGlyLys
ENST00000402364.1:c.3670_3671insGAAGAGGGAAAG	ENSP00000385844.1:p.Lys1223_Glu1224insGlyArgGlyLys
ENST00000423156.1:c.1058-8472_1058-8471insGAAGAGGGAAAG	ENSP00000390925.1:n.1058-8472_1058-8471insGAAGAGGGAAAG
ENST00000455470.5:c.2129+3489_2129+3490insGAAGAGGGAAAG
NM_001278055.1:c.5479_5480insGAAGAGGGAAAG	NP_001264984.1:p.Lys1826_Glu1827insGlyArgGlyLys
NM_014363.5:c.5920_5921insGAAGAGGGAAAG	NP_055178.3:p.Lys1973_Glu1974insGlyArgGlyLys
XM_005266338.1:c.5947_5948insGAAGAGGGAAAG	XP_005266395.1:p.Lys1982_Glu1983insGlyArgGlyLys
XM_011535038.1:c.5971_5972insGAAGAGGGAAAG	XP_011533340.1:p.Lys1990_Glu1991insGlyArgGlyLys
XM_011535039.1:c.5938_5939insGAAGAGGGAAAG	XP_011533341.1:p.Lys1979_Glu1980insGlyArgGlyLys
XM_005266338.2:c.5947_5948insGAAGAGGGAAAG	XP_005266395.1:p.Lys1982_Glu1983insGlyArgGlyLys
XM_011535039.2:c.5938_5939insGAAGAGGGAAAG	XP_011533341.1:p.Lys1979_Glu1980insGlyArgGlyLys
XM_017020539.1:c.5911_5912insGAAGAGGGAAAG	XP_016876028.1:p.Lys1970_Glu1971insGlyArgGlyLys
XM_024449337.1:c.5947_5948insGAAGAGGGAAAG	XP_024305105.1:p.Lys1982_Glu1983insGlyArgGlyLys
NM_014363.6:c.5920_5921insGAAGAGGGAAAG MANE Select	NP_055178.3:p.Lys1973_Glu1974insGlyArgGlyLys
NM_001278055.2:c.5479_5480insGAAGAGGGAAAG	NP_001264984.1:p.Lys1826_Glu1827insGlyArgGlyLys