Canonical Allele Identifier: CA2831039788

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334959_23334960del , CM000675.2:g.23334959_23334960del	GRCh38
NC_000013.10:g.23909098_23909099del , CM000675.1:g.23909098_23909099del	GRCh37
NC_000013.9:g.22807098_22807099del	NCBI36
NG_012342.1:g.103744_103745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18826_2185+18827del	ENSP00000508399.1:n.2185+18826_2185+18827del
ENST00000682944.1:c.8944_8945del	ENSP00000507173.1:p.Asp2982PhefsTer29
ENST00000683210.1:c.2185+18826_2185+18827del	ENSP00000506739.1:n.2185+18826_2185+18827del
ENST00000683270.1:c.6445+2463_6445+2464del	ENSP00000507624.1:n.6445+2463_6445+2464del
ENST00000683367.1:c.2177-5475_2177-5474del	ENSP00000507780.1:n.2177-5475_2177-5474del
ENST00000683489.1:c.2292-5007_2292-5006del	ENSP00000508403.1:n.2292-5007_2292-5006del
ENST00000683680.1:c.2319-5007_2319-5006del	ENSP00000507223.1:n.2319-5007_2319-5006del
ENST00000684163.1:c.2204-5475_2204-5474del	ENSP00000508262.1:n.2204-5475_2204-5474del
ENST00000684196.1:n.4543-5475_4543-5474del
ENST00000684325.1:c.2186-13285_2186-13284del	ENSP00000508121.1:n.2186-13285_2186-13284del
ENST00000684385.1:c.2221-5475_2221-5474del	ENSP00000507855.1:n.2221-5475_2221-5474del
ENST00000684497.1:c.2186-12315_2186-12314del	ENSP00000507057.1:n.2186-12315_2186-12314del
ENST00000382292.9:c.8917_8918del MANE Select	ENSP00000371729.3:p.Asp2973PhefsTer29
ENST00000423156.2:c.2186-5475_2186-5474del	ENSP00000390925.2:n.2186-5475_2186-5474del
ENST00000455470.6:c.2432-5475_2432-5474del	ENSP00000406565.2:n.2432-5475_2432-5474del
ENST00000382292.7:c.8917_8918del	ENSP00000371729.3:p.Asp2973PhefsTer29
ENST00000382298.7:c.8917_8918del	ENSP00000371735.3:p.Asp2973PhefsTer29
ENST00000402364.1:c.6667_6668del	ENSP00000385844.1:p.Asp2223PhefsTer29
ENST00000423156.1:c.1058-5475_1058-5474del	ENSP00000390925.1:n.1058-5475_1058-5474del
ENST00000455470.5:c.2130-5475_2130-5474del
NM_001278055.1:c.8476_8477del	NP_001264984.1:p.Asp2826PhefsTer29
NM_014363.5:c.8917_8918del	NP_055178.3:p.Asp2973PhefsTer29
XM_005266338.1:c.8944_8945del	XP_005266395.1:p.Asp2982PhefsTer29
XM_011535038.1:c.8968_8969del	XP_011533340.1:p.Asp2990PhefsTer29
XM_011535039.1:c.8935_8936del	XP_011533341.1:p.Asp2979PhefsTer29
XM_005266338.2:c.8944_8945del	XP_005266395.1:p.Asp2982PhefsTer29
XM_011535039.2:c.8935_8936del	XP_011533341.1:p.Asp2979PhefsTer29
XM_017020539.1:c.8908_8909del	XP_016876028.1:p.Asp2970PhefsTer29
XM_024449337.1:c.8944_8945del	XP_024305105.1:p.Asp2982PhefsTer29
NM_014363.6:c.8917_8918del MANE Select	NP_055178.3:p.Asp2973PhefsTer29
NM_001278055.2:c.8476_8477del	NP_001264984.1:p.Asp2826PhefsTer29