Canonical Allele Identifier: CA2078629432

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338467_23338471delinsCTTTT , CM000675.2:g.23338467_23338471delinsCTTTT	GRCh38
NC_000013.10:g.23912606_23912610delinsCTTTT , CM000675.1:g.23912606_23912610delinsCTTTT	GRCh37
NC_000013.9:g.22810606_22810610delinsCTTTT	NCBI36
NG_012342.1:g.100232_100236delinsAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15314_2185+15318delinsAAAAG	ENSP00000508399.1:n.2185+15314_2185+15318delinsAAAAG
ENST00000682944.1:c.5432_5436delinsAAAAG	ENSP00000507173.1:p.Lys1811=
ENST00000683210.1:c.2185+15314_2185+15318delinsAAAAG	ENSP00000506739.1:n.2185+15314_2185+15318delinsAAAAG
ENST00000683270.1:c.5396_5400delinsAAAAG	ENSP00000507624.1:p.Lys1799=
ENST00000683367.1:c.2177-8987_2177-8983delinsAAAAG	ENSP00000507780.1:n.2177-8987_2177-8983delinsAAAAG
ENST00000683489.1:c.2291+3114_2291+3118delinsAAAAG	ENSP00000508403.1:n.2291+3114_2291+3118delinsAAAAG
ENST00000683680.1:c.2318+3114_2318+3118delinsAAAAG	ENSP00000507223.1:n.2318+3114_2318+3118delinsAAAAG
ENST00000684163.1:c.2203+8340_2203+8344delinsAAAAG	ENSP00000508262.1:n.2203+8340_2203+8344delinsAAAAG
ENST00000684196.1:n.4543-8987_4543-8983delinsAAAAG
ENST00000684325.1:c.2185+15314_2185+15318delinsAAAAG	ENSP00000508121.1:n.2185+15314_2185+15318delinsAAAAG
ENST00000684385.1:c.2220+8340_2220+8344delinsAAAAG	ENSP00000507855.1:n.2220+8340_2220+8344delinsAAAAG
ENST00000684497.1:c.2185+15314_2185+15318delinsAAAAG	ENSP00000507057.1:n.2185+15314_2185+15318delinsAAAAG
ENST00000382292.9:c.5405_5409delinsAAAAG MANE Select	ENSP00000371729.3:p.Lys1802=
ENST00000423156.2:c.2186-8987_2186-8983delinsAAAAG	ENSP00000390925.2:n.2186-8987_2186-8983delinsAAAAG
ENST00000455470.6:c.2431+2974_2431+2978delinsAAAAG	ENSP00000406565.2:n.2431+2974_2431+2978delinsAAAAG
ENST00000382292.7:c.5405_5409delinsAAAAG	ENSP00000371729.3:p.Lys1802=
ENST00000382298.7:c.5405_5409delinsAAAAG	ENSP00000371735.3:p.Lys1802=
ENST00000402364.1:c.3155_3159delinsAAAAG	ENSP00000385844.1:p.Lys1052=
ENST00000423156.1:c.1058-8987_1058-8983delinsAAAAG	ENSP00000390925.1:n.1058-8987_1058-8983delinsAAAAG
ENST00000455470.5:c.2129+2974_2129+2978delinsAAAAG
NM_001278055.1:c.4964_4968delinsAAAAG	NP_001264984.1:p.Lys1655=
NM_014363.5:c.5405_5409delinsAAAAG	NP_055178.3:p.Lys1802=
XM_005266338.1:c.5432_5436delinsAAAAG	XP_005266395.1:p.Lys1811=
XM_011535038.1:c.5456_5460delinsAAAAG	XP_011533340.1:p.Lys1819=
XM_011535039.1:c.5423_5427delinsAAAAG	XP_011533341.1:p.Lys1808=
XM_005266338.2:c.5432_5436delinsAAAAG	XP_005266395.1:p.Lys1811=
XM_011535039.2:c.5423_5427delinsAAAAG	XP_011533341.1:p.Lys1808=
XM_017020539.1:c.5396_5400delinsAAAAG	XP_016876028.1:p.Lys1799=
XM_024449337.1:c.5432_5436delinsAAAAG	XP_024305105.1:p.Lys1811=
NM_014363.6:c.5405_5409delinsAAAAG MANE Select	NP_055178.3:p.Lys1802=
NM_001278055.2:c.4964_4968delinsAAAAG	NP_001264984.1:p.Lys1655=