Canonical Allele Identifier: CA2727683811

Gene: SACS

Linked Data

• dbSNP Id: rs2137619524

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338524_23338538del , CM000675.2:g.23338524_23338538del	GRCh38
NC_000013.10:g.23912663_23912677del , CM000675.1:g.23912663_23912677del	GRCh37
NC_000013.9:g.22810663_22810677del	NCBI36
NG_012342.1:g.100168_100182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15250_2185+15264del	ENSP00000508399.1:n.2185+15250_2185+15264del
ENST00000682944.1:c.5368_5382del	ENSP00000507173.1:p.Leu1790_Pro1794del
ENST00000683210.1:c.2185+15250_2185+15264del	ENSP00000506739.1:n.2185+15250_2185+15264del
ENST00000683270.1:c.5332_5346del	ENSP00000507624.1:p.Leu1778_Pro1782del
ENST00000683367.1:c.2177-9051_2177-9037del	ENSP00000507780.1:n.2177-9051_2177-9037del
ENST00000683489.1:c.2291+3050_2291+3064del	ENSP00000508403.1:n.2291+3050_2291+3064del
ENST00000683680.1:c.2318+3050_2318+3064del	ENSP00000507223.1:n.2318+3050_2318+3064del
ENST00000684163.1:c.2203+8276_2203+8290del	ENSP00000508262.1:n.2203+8276_2203+8290del
ENST00000684196.1:n.4543-9051_4543-9037del
ENST00000684325.1:c.2185+15250_2185+15264del	ENSP00000508121.1:n.2185+15250_2185+15264del
ENST00000684385.1:c.2220+8276_2220+8290del	ENSP00000507855.1:n.2220+8276_2220+8290del
ENST00000684497.1:c.2185+15250_2185+15264del	ENSP00000507057.1:n.2185+15250_2185+15264del
ENST00000382292.9:c.5341_5355del MANE Select	ENSP00000371729.3:p.Leu1781_Pro1785del
ENST00000423156.2:c.2186-9051_2186-9037del	ENSP00000390925.2:n.2186-9051_2186-9037del
ENST00000455470.6:c.2431+2910_2431+2924del	ENSP00000406565.2:n.2431+2910_2431+2924del
ENST00000382292.7:c.5341_5355del	ENSP00000371729.3:p.Leu1781_Pro1785del
ENST00000382298.7:c.5341_5355del	ENSP00000371735.3:p.Leu1781_Pro1785del
ENST00000402364.1:c.3091_3105del	ENSP00000385844.1:p.Leu1031_Pro1035del
ENST00000423156.1:c.1058-9051_1058-9037del	ENSP00000390925.1:n.1058-9051_1058-9037del
ENST00000455470.5:c.2129+2910_2129+2924del
NM_001278055.1:c.4900_4914del	NP_001264984.1:p.Leu1634_Pro1638del
NM_014363.5:c.5341_5355del	NP_055178.3:p.Leu1781_Pro1785del
XM_005266338.1:c.5368_5382del	XP_005266395.1:p.Leu1790_Pro1794del
XM_011535038.1:c.5392_5406del	XP_011533340.1:p.Leu1798_Pro1802del
XM_011535039.1:c.5359_5373del	XP_011533341.1:p.Leu1787_Pro1791del
XM_005266338.2:c.5368_5382del	XP_005266395.1:p.Leu1790_Pro1794del
XM_011535039.2:c.5359_5373del	XP_011533341.1:p.Leu1787_Pro1791del
XM_017020539.1:c.5332_5346del	XP_016876028.1:p.Leu1778_Pro1782del
XM_024449337.1:c.5368_5382del	XP_024305105.1:p.Leu1790_Pro1794del
NM_014363.6:c.5341_5355del MANE Select	NP_055178.3:p.Leu1781_Pro1785del
NM_001278055.2:c.4900_4914del	NP_001264984.1:p.Leu1634_Pro1638del