Canonical Allele Identifier: CA246648342

Gene: SACS

Linked Data

• dbSNP Id: rs930354858
• MyVariant Identifiers: chr13:g.23905179_23905189del (hg19) ; chr13:g.23331040_23331050del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331040_23331050del , CM000675.2:g.23331040_23331050del	GRCh38
NC_000013.10:g.23905179_23905189del , CM000675.1:g.23905179_23905189del	GRCh37
NC_000013.9:g.22803179_22803189del	NCBI36
NG_012342.1:g.107653_107663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18935_2186-18925del	ENSP00000508399.1:n.2186-18935_2186-18925del
ENST00000682944.1:c.12853_12863del	ENSP00000507173.1:p.Ile4285PhefsTer4
ENST00000683210.1:c.2185+22735_2185+22745del	ENSP00000506739.1:n.2185+22735_2185+22745del
ENST00000683270.1:c.6446-1566_6446-1556del	ENSP00000507624.1:n.6446-1566_6446-1556del
ENST00000683367.1:c.2177-1566_2177-1556del	ENSP00000507780.1:n.2177-1566_2177-1556del
ENST00000683489.1:c.2292-1098_2292-1088del	ENSP00000508403.1:n.2292-1098_2292-1088del
ENST00000683680.1:c.2319-1098_2319-1088del	ENSP00000507223.1:n.2319-1098_2319-1088del
ENST00000684163.1:c.2204-1566_2204-1556del	ENSP00000508262.1:n.2204-1566_2204-1556del
ENST00000684196.1:n.4543-1566_4543-1556del
ENST00000684325.1:c.2186-9376_2186-9366del	ENSP00000508121.1:n.2186-9376_2186-9366del
ENST00000684385.1:c.2221-1566_2221-1556del	ENSP00000507855.1:n.2221-1566_2221-1556del
ENST00000684497.1:c.2186-8406_2186-8396del	ENSP00000507057.1:n.2186-8406_2186-8396del
ENST00000382292.9:c.12826_12836del MANE Select	ENSP00000371729.3:p.Ile4276PhefsTer4
ENST00000423156.2:c.2186-1566_2186-1556del	ENSP00000390925.2:n.2186-1566_2186-1556del
ENST00000455470.6:c.2432-1566_2432-1556del	ENSP00000406565.2:n.2432-1566_2432-1556del
ENST00000382292.7:c.12826_12836del	ENSP00000371729.3:p.Ile4276PhefsTer4
ENST00000382298.7:c.12826_12836del	ENSP00000371735.3:p.Ile4276PhefsTer4
ENST00000402364.1:c.10576_10586del	ENSP00000385844.1:p.Ile3526PhefsTer4
ENST00000423156.1:c.1058-1566_1058-1556del	ENSP00000390925.1:n.1058-1566_1058-1556del
ENST00000455470.5:c.2130-1566_2130-1556del
NM_001278055.1:c.12385_12395del	NP_001264984.1:p.Ile4129PhefsTer4
NM_014363.5:c.12826_12836del	NP_055178.3:p.Ile4276PhefsTer4
XM_005266338.1:c.12853_12863del	XP_005266395.1:p.Ile4285PhefsTer4
XM_011535038.1:c.12877_12887del	XP_011533340.1:p.Ile4293PhefsTer4
XM_011535039.1:c.12844_12854del	XP_011533341.1:p.Ile4282PhefsTer4
XM_005266338.2:c.12853_12863del	XP_005266395.1:p.Ile4285PhefsTer4
XM_011535039.2:c.12844_12854del	XP_011533341.1:p.Ile4282PhefsTer4
XM_017020539.1:c.12817_12827del	XP_016876028.1:p.Ile4273PhefsTer4
XM_024449337.1:c.12853_12863del	XP_024305105.1:p.Ile4285PhefsTer4
NM_014363.6:c.12826_12836del MANE Select	NP_055178.3:p.Ile4276PhefsTer4
NM_001278055.2:c.12385_12395del	NP_001264984.1:p.Ile4129PhefsTer4