Canonical Allele Identifier: CA2078624727

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336074_23336077delinsACAT , CM000675.2:g.23336074_23336077delinsACAT	GRCh38
NC_000013.10:g.23910213_23910216delinsACAT , CM000675.1:g.23910213_23910216delinsACAT	GRCh37
NC_000013.9:g.22808213_22808216delinsACAT	NCBI36
NG_012342.1:g.102626_102629delinsATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17708_2185+17711delinsATGT	ENSP00000508399.1:n.2185+17708_2185+17711delinsATGT
ENST00000682944.1:c.7826_7829delinsATGT	ENSP00000507173.1:p.Asp2609=
ENST00000683210.1:c.2185+17708_2185+17711delinsATGT	ENSP00000506739.1:n.2185+17708_2185+17711delinsATGT
ENST00000683270.1:c.6445+1345_6445+1348delinsATGT	ENSP00000507624.1:n.6445+1345_6445+1348delinsATGT
ENST00000683367.1:c.2177-6593_2177-6590delinsATGT	ENSP00000507780.1:n.2177-6593_2177-6590delinsATGT
ENST00000683489.1:c.2291+5508_2291+5511delinsATGT	ENSP00000508403.1:n.2291+5508_2291+5511delinsATGT
ENST00000683680.1:c.2318+5508_2318+5511delinsATGT	ENSP00000507223.1:n.2318+5508_2318+5511delinsATGT
ENST00000684163.1:c.2204-6593_2204-6590delinsATGT	ENSP00000508262.1:n.2204-6593_2204-6590delinsATGT
ENST00000684196.1:n.4543-6593_4543-6590delinsATGT
ENST00000684325.1:c.2186-14403_2186-14400delinsATGT	ENSP00000508121.1:n.2186-14403_2186-14400delinsATGT
ENST00000684385.1:c.2221-6593_2221-6590delinsATGT	ENSP00000507855.1:n.2221-6593_2221-6590delinsATGT
ENST00000684497.1:c.2186-13433_2186-13430delinsATGT	ENSP00000507057.1:n.2186-13433_2186-13430delinsATGT
ENST00000382292.9:c.7799_7802delinsATGT MANE Select	ENSP00000371729.3:p.Asp2600=
ENST00000423156.2:c.2186-6593_2186-6590delinsATGT	ENSP00000390925.2:n.2186-6593_2186-6590delinsATGT
ENST00000455470.6:c.2431+5368_2431+5371delinsATGT	ENSP00000406565.2:n.2431+5368_2431+5371delinsATGT
ENST00000382292.7:c.7799_7802delinsATGT	ENSP00000371729.3:p.Asp2600=
ENST00000382298.7:c.7799_7802delinsATGT	ENSP00000371735.3:p.Asp2600=
ENST00000402364.1:c.5549_5552delinsATGT	ENSP00000385844.1:p.Asp1850=
ENST00000423156.1:c.1058-6593_1058-6590delinsATGT	ENSP00000390925.1:n.1058-6593_1058-6590delinsATGT
ENST00000455470.5:c.2129+5368_2129+5371delinsATGT
NM_001278055.1:c.7358_7361delinsATGT	NP_001264984.1:p.Asp2453=
NM_014363.5:c.7799_7802delinsATGT	NP_055178.3:p.Asp2600=
XM_005266338.1:c.7826_7829delinsATGT	XP_005266395.1:p.Asp2609=
XM_011535038.1:c.7850_7853delinsATGT	XP_011533340.1:p.Asp2617=
XM_011535039.1:c.7817_7820delinsATGT	XP_011533341.1:p.Asp2606=
XM_005266338.2:c.7826_7829delinsATGT	XP_005266395.1:p.Asp2609=
XM_011535039.2:c.7817_7820delinsATGT	XP_011533341.1:p.Asp2606=
XM_017020539.1:c.7790_7793delinsATGT	XP_016876028.1:p.Asp2597=
XM_024449337.1:c.7826_7829delinsATGT	XP_024305105.1:p.Asp2609=
NM_014363.6:c.7799_7802delinsATGT MANE Select	NP_055178.3:p.Asp2600=
NM_001278055.2:c.7358_7361delinsATGT	NP_001264984.1:p.Asp2453=