Canonical Allele Identifier: CA2078640952

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339707_23339708delinsAG , CM000675.2:g.23339707_23339708delinsAG	GRCh38
NC_000013.10:g.23913846_23913847delinsAG , CM000675.1:g.23913846_23913847delinsAG	GRCh37
NC_000013.9:g.22811846_22811847delinsAG	NCBI36
NG_012342.1:g.98995_98996delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14077_2185+14078delinsCT	ENSP00000508399.1:n.2185+14077_2185+14078delinsCT
ENST00000682944.1:c.4195_4196delinsCT	ENSP00000507173.1:p.Leu1399=
ENST00000683210.1:c.2185+14077_2185+14078delinsCT	ENSP00000506739.1:n.2185+14077_2185+14078delinsCT
ENST00000683270.1:c.4159_4160delinsCT	ENSP00000507624.1:p.Leu1387=
ENST00000683367.1:c.2177-10224_2177-10223delinsCT	ENSP00000507780.1:n.2177-10224_2177-10223delinsCT
ENST00000683489.1:c.2291+1877_2291+1878delinsCT	ENSP00000508403.1:n.2291+1877_2291+1878delinsCT
ENST00000683680.1:c.2318+1877_2318+1878delinsCT	ENSP00000507223.1:n.2318+1877_2318+1878delinsCT
ENST00000684163.1:c.2203+7103_2203+7104delinsCT	ENSP00000508262.1:n.2203+7103_2203+7104delinsCT
ENST00000684196.1:n.4543-10224_4543-10223delinsCT
ENST00000684325.1:c.2185+14077_2185+14078delinsCT	ENSP00000508121.1:n.2185+14077_2185+14078delinsCT
ENST00000684385.1:c.2220+7103_2220+7104delinsCT	ENSP00000507855.1:n.2220+7103_2220+7104delinsCT
ENST00000684497.1:c.2185+14077_2185+14078delinsCT	ENSP00000507057.1:n.2185+14077_2185+14078delinsCT
ENST00000382292.9:c.4168_4169delinsCT MANE Select	ENSP00000371729.3:p.Leu1390=
ENST00000423156.2:c.2186-10224_2186-10223delinsCT	ENSP00000390925.2:n.2186-10224_2186-10223delinsCT
ENST00000455470.6:c.2431+1737_2431+1738delinsCT	ENSP00000406565.2:n.2431+1737_2431+1738delinsCT
ENST00000382292.7:c.4168_4169delinsCT	ENSP00000371729.3:p.Leu1390=
ENST00000382298.7:c.4168_4169delinsCT	ENSP00000371735.3:p.Leu1390=
ENST00000402364.1:c.1918_1919delinsCT	ENSP00000385844.1:p.Leu640=
ENST00000423156.1:c.1058-10224_1058-10223delinsCT	ENSP00000390925.1:n.1058-10224_1058-10223delinsCT
ENST00000455470.5:c.2129+1737_2129+1738delinsCT
NM_001278055.1:c.3727_3728delinsCT	NP_001264984.1:p.Leu1243=
NM_014363.5:c.4168_4169delinsCT	NP_055178.3:p.Leu1390=
XM_005266338.1:c.4195_4196delinsCT	XP_005266395.1:p.Leu1399=
XM_011535038.1:c.4219_4220delinsCT	XP_011533340.1:p.Leu1407=
XM_011535039.1:c.4186_4187delinsCT	XP_011533341.1:p.Leu1396=
XM_005266338.2:c.4195_4196delinsCT	XP_005266395.1:p.Leu1399=
XM_011535039.2:c.4186_4187delinsCT	XP_011533341.1:p.Leu1396=
XM_017020539.1:c.4159_4160delinsCT	XP_016876028.1:p.Leu1387=
XM_024449337.1:c.4195_4196delinsCT	XP_024305105.1:p.Leu1399=
NM_014363.6:c.4168_4169delinsCT MANE Select	NP_055178.3:p.Leu1390=
NM_001278055.2:c.3727_3728delinsCT	NP_001264984.1:p.Leu1243=