Canonical Allele Identifier: CA2575369463

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334902del , CM000675.2:g.23334902del	GRCh38
NC_000013.10:g.23909041del , CM000675.1:g.23909041del	GRCh37
NC_000013.9:g.22807041del	NCBI36
NG_012342.1:g.103801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18883del	ENSP00000508399.1:n.2185+18883del
ENST00000682944.1:c.9001del	ENSP00000507173.1:p.Leu3001PhefsTer20
ENST00000683210.1:c.2185+18883del	ENSP00000506739.1:n.2185+18883del
ENST00000683270.1:c.6445+2520del	ENSP00000507624.1:n.6445+2520del
ENST00000683367.1:c.2177-5418del	ENSP00000507780.1:n.2177-5418del
ENST00000683489.1:c.2292-4950del	ENSP00000508403.1:n.2292-4950del
ENST00000683680.1:c.2319-4950del	ENSP00000507223.1:n.2319-4950del
ENST00000684163.1:c.2204-5418del	ENSP00000508262.1:n.2204-5418del
ENST00000684196.1:n.4543-5418del
ENST00000684325.1:c.2186-13228del	ENSP00000508121.1:n.2186-13228del
ENST00000684385.1:c.2221-5418del	ENSP00000507855.1:n.2221-5418del
ENST00000684497.1:c.2186-12258del	ENSP00000507057.1:n.2186-12258del
ENST00000382292.9:c.8974del MANE Select	ENSP00000371729.3:p.Leu2992PhefsTer20
ENST00000423156.2:c.2186-5418del	ENSP00000390925.2:n.2186-5418del
ENST00000455470.6:c.2432-5418del	ENSP00000406565.2:n.2432-5418del
ENST00000382292.7:c.8974del	ENSP00000371729.3:p.Leu2992PhefsTer20
ENST00000382298.7:c.8974del	ENSP00000371735.3:p.Leu2992PhefsTer20
ENST00000402364.1:c.6724del	ENSP00000385844.1:p.Leu2242PhefsTer20
ENST00000423156.1:c.1058-5418del	ENSP00000390925.1:n.1058-5418del
ENST00000455470.5:c.2130-5418del
NM_001278055.1:c.8533del	NP_001264984.1:p.Leu2845PhefsTer20
NM_014363.5:c.8974del	NP_055178.3:p.Leu2992PhefsTer20
XM_005266338.1:c.9001del	XP_005266395.1:p.Leu3001PhefsTer20
XM_011535038.1:c.9025del	XP_011533340.1:p.Leu3009PhefsTer20
XM_011535039.1:c.8992del	XP_011533341.1:p.Leu2998PhefsTer20
XM_005266338.2:c.9001del	XP_005266395.1:p.Leu3001PhefsTer20
XM_011535039.2:c.8992del	XP_011533341.1:p.Leu2998PhefsTer20
XM_017020539.1:c.8965del	XP_016876028.1:p.Leu2989PhefsTer20
XM_024449337.1:c.9001del	XP_024305105.1:p.Leu3001PhefsTer20
NM_014363.6:c.8974del MANE Select	NP_055178.3:p.Leu2992PhefsTer20
NM_001278055.2:c.8533del	NP_001264984.1:p.Leu2845PhefsTer20