Canonical Allele Identifier: CA2078628333

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337949_23337951delinsGTC , CM000675.2:g.23337949_23337951delinsGTC	GRCh38
NC_000013.10:g.23912088_23912090delinsGTC , CM000675.1:g.23912088_23912090delinsGTC	GRCh37
NC_000013.9:g.22810088_22810090delinsGTC	NCBI36
NG_012342.1:g.100752_100754delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15834_2185+15836delinsGAC	ENSP00000508399.1:n.2185+15834_2185+15836delinsGAC
ENST00000682944.1:c.5952_5954delinsGAC	ENSP00000507173.1:p.Leu1984=
ENST00000683210.1:c.2185+15834_2185+15836delinsGAC	ENSP00000506739.1:n.2185+15834_2185+15836delinsGAC
ENST00000683270.1:c.5916_5918delinsGAC	ENSP00000507624.1:p.Leu1972=
ENST00000683367.1:c.2177-8467_2177-8465delinsGAC	ENSP00000507780.1:n.2177-8467_2177-8465delinsGAC
ENST00000683489.1:c.2291+3634_2291+3636delinsGAC	ENSP00000508403.1:n.2291+3634_2291+3636delinsGAC
ENST00000683680.1:c.2318+3634_2318+3636delinsGAC	ENSP00000507223.1:n.2318+3634_2318+3636delinsGAC
ENST00000684163.1:c.2204-8467_2204-8465delinsGAC	ENSP00000508262.1:n.2204-8467_2204-8465delinsGAC
ENST00000684196.1:n.4543-8467_4543-8465delinsGAC
ENST00000684325.1:c.2185+15834_2185+15836delinsGAC	ENSP00000508121.1:n.2185+15834_2185+15836delinsGAC
ENST00000684385.1:c.2221-8467_2221-8465delinsGAC	ENSP00000507855.1:n.2221-8467_2221-8465delinsGAC
ENST00000684497.1:c.2186-15307_2186-15305delinsGAC	ENSP00000507057.1:n.2186-15307_2186-15305delinsGAC
ENST00000382292.9:c.5925_5927delinsGAC MANE Select	ENSP00000371729.3:p.Leu1975=
ENST00000423156.2:c.2186-8467_2186-8465delinsGAC	ENSP00000390925.2:n.2186-8467_2186-8465delinsGAC
ENST00000455470.6:c.2431+3494_2431+3496delinsGAC	ENSP00000406565.2:n.2431+3494_2431+3496delinsGAC
ENST00000382292.7:c.5925_5927delinsGAC	ENSP00000371729.3:p.Leu1975=
ENST00000382298.7:c.5925_5927delinsGAC	ENSP00000371735.3:p.Leu1975=
ENST00000402364.1:c.3675_3677delinsGAC	ENSP00000385844.1:p.Leu1225=
ENST00000423156.1:c.1058-8467_1058-8465delinsGAC	ENSP00000390925.1:n.1058-8467_1058-8465delinsGAC
ENST00000455470.5:c.2129+3494_2129+3496delinsGAC
NM_001278055.1:c.5484_5486delinsGAC	NP_001264984.1:p.Leu1828=
NM_014363.5:c.5925_5927delinsGAC	NP_055178.3:p.Leu1975=
XM_005266338.1:c.5952_5954delinsGAC	XP_005266395.1:p.Leu1984=
XM_011535038.1:c.5976_5978delinsGAC	XP_011533340.1:p.Leu1992=
XM_011535039.1:c.5943_5945delinsGAC	XP_011533341.1:p.Leu1981=
XM_005266338.2:c.5952_5954delinsGAC	XP_005266395.1:p.Leu1984=
XM_011535039.2:c.5943_5945delinsGAC	XP_011533341.1:p.Leu1981=
XM_017020539.1:c.5916_5918delinsGAC	XP_016876028.1:p.Leu1972=
XM_024449337.1:c.5952_5954delinsGAC	XP_024305105.1:p.Leu1984=
NM_014363.6:c.5925_5927delinsGAC MANE Select	NP_055178.3:p.Leu1975=
NM_001278055.2:c.5484_5486delinsGAC	NP_001264984.1:p.Leu1828=