Canonical Allele Identifier: CA2078640927

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339700_23339703delinsCATG , CM000675.2:g.23339700_23339703delinsCATG	GRCh38
NC_000013.10:g.23913839_23913842delinsCATG , CM000675.1:g.23913839_23913842delinsCATG	GRCh37
NC_000013.9:g.22811839_22811842delinsCATG	NCBI36
NG_012342.1:g.99000_99003delinsCATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14082_2185+14085delinsCATG	ENSP00000508399.1:n.2185+14082_2185+14085delinsCATG
ENST00000682944.1:c.4200_4203delinsCATG	ENSP00000507173.1:p.Ile1400=
ENST00000683210.1:c.2185+14082_2185+14085delinsCATG	ENSP00000506739.1:n.2185+14082_2185+14085delinsCATG
ENST00000683270.1:c.4164_4167delinsCATG	ENSP00000507624.1:p.Ile1388=
ENST00000683367.1:c.2177-10219_2177-10216delinsCATG	ENSP00000507780.1:n.2177-10219_2177-10216delinsCATG
ENST00000683489.1:c.2291+1882_2291+1885delinsCATG	ENSP00000508403.1:n.2291+1882_2291+1885delinsCATG
ENST00000683680.1:c.2318+1882_2318+1885delinsCATG	ENSP00000507223.1:n.2318+1882_2318+1885delinsCATG
ENST00000684163.1:c.2203+7108_2203+7111delinsCATG	ENSP00000508262.1:n.2203+7108_2203+7111delinsCATG
ENST00000684196.1:n.4543-10219_4543-10216delinsCATG
ENST00000684325.1:c.2185+14082_2185+14085delinsCATG	ENSP00000508121.1:n.2185+14082_2185+14085delinsCATG
ENST00000684385.1:c.2220+7108_2220+7111delinsCATG	ENSP00000507855.1:n.2220+7108_2220+7111delinsCATG
ENST00000684497.1:c.2185+14082_2185+14085delinsCATG	ENSP00000507057.1:n.2185+14082_2185+14085delinsCATG
ENST00000382292.9:c.4173_4176delinsCATG MANE Select	ENSP00000371729.3:p.Ile1391=
ENST00000423156.2:c.2186-10219_2186-10216delinsCATG	ENSP00000390925.2:n.2186-10219_2186-10216delinsCATG
ENST00000455470.6:c.2431+1742_2431+1745delinsCATG	ENSP00000406565.2:n.2431+1742_2431+1745delinsCATG
ENST00000382292.7:c.4173_4176delinsCATG	ENSP00000371729.3:p.Ile1391=
ENST00000382298.7:c.4173_4176delinsCATG	ENSP00000371735.3:p.Ile1391=
ENST00000402364.1:c.1923_1926delinsCATG	ENSP00000385844.1:p.Ile641=
ENST00000423156.1:c.1058-10219_1058-10216delinsCATG	ENSP00000390925.1:n.1058-10219_1058-10216delinsCATG
ENST00000455470.5:c.2129+1742_2129+1745delinsCATG
NM_001278055.1:c.3732_3735delinsCATG	NP_001264984.1:p.Ile1244=
NM_014363.5:c.4173_4176delinsCATG	NP_055178.3:p.Ile1391=
XM_005266338.1:c.4200_4203delinsCATG	XP_005266395.1:p.Ile1400=
XM_011535038.1:c.4224_4227delinsCATG	XP_011533340.1:p.Ile1408=
XM_011535039.1:c.4191_4194delinsCATG	XP_011533341.1:p.Ile1397=
XM_005266338.2:c.4200_4203delinsCATG	XP_005266395.1:p.Ile1400=
XM_011535039.2:c.4191_4194delinsCATG	XP_011533341.1:p.Ile1397=
XM_017020539.1:c.4164_4167delinsCATG	XP_016876028.1:p.Ile1388=
XM_024449337.1:c.4200_4203delinsCATG	XP_024305105.1:p.Ile1400=
NM_014363.6:c.4173_4176delinsCATG MANE Select	NP_055178.3:p.Ile1391=
NM_001278055.2:c.3732_3735delinsCATG	NP_001264984.1:p.Ile1244=