Canonical Allele Identifier: CA2575369466

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336522_23336524del , CM000675.2:g.23336522_23336524del	GRCh38
NC_000013.10:g.23910661_23910663del , CM000675.1:g.23910661_23910663del	GRCh37
NC_000013.9:g.22808661_22808663del	NCBI36
NG_012342.1:g.102183_102185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17265_2185+17267del	ENSP00000508399.1:n.2185+17265_2185+17267del
ENST00000682944.1:c.7383_7385del	ENSP00000507173.1:p.Leu2462del
ENST00000683210.1:c.2185+17265_2185+17267del	ENSP00000506739.1:n.2185+17265_2185+17267del
ENST00000683270.1:c.6445+902_6445+904del	ENSP00000507624.1:n.6445+902_6445+904del
ENST00000683367.1:c.2177-7036_2177-7034del	ENSP00000507780.1:n.2177-7036_2177-7034del
ENST00000683489.1:c.2291+5065_2291+5067del	ENSP00000508403.1:n.2291+5065_2291+5067del
ENST00000683680.1:c.2318+5065_2318+5067del	ENSP00000507223.1:n.2318+5065_2318+5067del
ENST00000684163.1:c.2204-7036_2204-7034del	ENSP00000508262.1:n.2204-7036_2204-7034del
ENST00000684196.1:n.4543-7036_4543-7034del
ENST00000684325.1:c.2186-14846_2186-14844del	ENSP00000508121.1:n.2186-14846_2186-14844del
ENST00000684385.1:c.2221-7036_2221-7034del	ENSP00000507855.1:n.2221-7036_2221-7034del
ENST00000684497.1:c.2186-13876_2186-13874del	ENSP00000507057.1:n.2186-13876_2186-13874del
ENST00000382292.9:c.7356_7358del MANE Select	ENSP00000371729.3:p.Leu2453del
ENST00000423156.2:c.2186-7036_2186-7034del	ENSP00000390925.2:n.2186-7036_2186-7034del
ENST00000455470.6:c.2431+4925_2431+4927del	ENSP00000406565.2:n.2431+4925_2431+4927del
ENST00000382292.7:c.7356_7358del	ENSP00000371729.3:p.Leu2453del
ENST00000382298.7:c.7356_7358del	ENSP00000371735.3:p.Leu2453del
ENST00000402364.1:c.5106_5108del	ENSP00000385844.1:p.Leu1703del
ENST00000423156.1:c.1058-7036_1058-7034del	ENSP00000390925.1:n.1058-7036_1058-7034del
ENST00000455470.5:c.2129+4925_2129+4927del
NM_001278055.1:c.6915_6917del	NP_001264984.1:p.Leu2306del
NM_014363.5:c.7356_7358del	NP_055178.3:p.Leu2453del
XM_005266338.1:c.7383_7385del	XP_005266395.1:p.Leu2462del
XM_011535038.1:c.7407_7409del	XP_011533340.1:p.Leu2470del
XM_011535039.1:c.7374_7376del	XP_011533341.1:p.Leu2459del
XM_005266338.2:c.7383_7385del	XP_005266395.1:p.Leu2462del
XM_011535039.2:c.7374_7376del	XP_011533341.1:p.Leu2459del
XM_017020539.1:c.7347_7349del	XP_016876028.1:p.Leu2450del
XM_024449337.1:c.7383_7385del	XP_024305105.1:p.Leu2462del
NM_014363.6:c.7356_7358del MANE Select	NP_055178.3:p.Leu2453del
NM_001278055.2:c.6915_6917del	NP_001264984.1:p.Leu2306del