Canonical Allele Identifier: CA2534409843

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332931_23332932insACAAGAAGG , CM000675.2:g.23332931_23332932insACAAGAAGG	GRCh38
NC_000013.10:g.23907070_23907071insACAAGAAGG , CM000675.1:g.23907070_23907071insACAAGAAGG	GRCh37
NC_000013.9:g.22805070_22805071insACAAGAAGG	NCBI36
NG_012342.1:g.105771_105772insCCTTCTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20817_2186-20816insCCTTCTTGT	ENSP00000508399.1:n.2186-20817_2186-20816insCCTTCTTGT
ENST00000682944.1:c.10971_10972insCCTTCTTGT	ENSP00000507173.1:p.Leu3657_Ser3658insProSerCys
ENST00000683210.1:c.2185+20853_2185+20854insCCTTCTTGT	ENSP00000506739.1:n.2185+20853_2185+20854insCCTTCTTGT
ENST00000683270.1:c.6446-3448_6446-3447insCCTTCTTGT	ENSP00000507624.1:n.6446-3448_6446-3447insCCTTCTTGT
ENST00000683367.1:c.2177-3448_2177-3447insCCTTCTTGT	ENSP00000507780.1:n.2177-3448_2177-3447insCCTTCTTGT
ENST00000683489.1:c.2292-2980_2292-2979insCCTTCTTGT	ENSP00000508403.1:n.2292-2980_2292-2979insCCTTCTTGT
ENST00000683680.1:c.2319-2980_2319-2979insCCTTCTTGT	ENSP00000507223.1:n.2319-2980_2319-2979insCCTTCTTGT
ENST00000684163.1:c.2204-3448_2204-3447insCCTTCTTGT	ENSP00000508262.1:n.2204-3448_2204-3447insCCTTCTTGT
ENST00000684196.1:n.4543-3448_4543-3447insCCTTCTTGT
ENST00000684325.1:c.2186-11258_2186-11257insCCTTCTTGT	ENSP00000508121.1:n.2186-11258_2186-11257insCCTTCTTGT
ENST00000684385.1:c.2221-3448_2221-3447insCCTTCTTGT	ENSP00000507855.1:n.2221-3448_2221-3447insCCTTCTTGT
ENST00000684497.1:c.2186-10288_2186-10287insCCTTCTTGT	ENSP00000507057.1:n.2186-10288_2186-10287insCCTTCTTGT
ENST00000382292.9:c.10944_10945insCCTTCTTGT MANE Select	ENSP00000371729.3:p.Leu3648_Ser3649insProSerCys
ENST00000423156.2:c.2186-3448_2186-3447insCCTTCTTGT	ENSP00000390925.2:n.2186-3448_2186-3447insCCTTCTTGT
ENST00000455470.6:c.2432-3448_2432-3447insCCTTCTTGT	ENSP00000406565.2:n.2432-3448_2432-3447insCCTTCTTGT
ENST00000382292.7:c.10944_10945insCCTTCTTGT	ENSP00000371729.3:p.Leu3648_Ser3649insProSerCys
ENST00000382298.7:c.10944_10945insCCTTCTTGT	ENSP00000371735.3:p.Leu3648_Ser3649insProSerCys
ENST00000402364.1:c.8694_8695insCCTTCTTGT	ENSP00000385844.1:p.Leu2898_Ser2899insProSerCys
ENST00000423156.1:c.1058-3448_1058-3447insCCTTCTTGT	ENSP00000390925.1:n.1058-3448_1058-3447insCCTTCTTGT
ENST00000455470.5:c.2130-3448_2130-3447insCCTTCTTGT
NM_001278055.1:c.10503_10504insCCTTCTTGT	NP_001264984.1:p.Leu3501_Ser3502insProSerCys
NM_014363.5:c.10944_10945insCCTTCTTGT	NP_055178.3:p.Leu3648_Ser3649insProSerCys
XM_005266338.1:c.10971_10972insCCTTCTTGT	XP_005266395.1:p.Leu3657_Ser3658insProSerCys
XM_011535038.1:c.10995_10996insCCTTCTTGT	XP_011533340.1:p.Leu3665_Ser3666insProSerCys
XM_011535039.1:c.10962_10963insCCTTCTTGT	XP_011533341.1:p.Leu3654_Ser3655insProSerCys
XM_005266338.2:c.10971_10972insCCTTCTTGT	XP_005266395.1:p.Leu3657_Ser3658insProSerCys
XM_011535039.2:c.10962_10963insCCTTCTTGT	XP_011533341.1:p.Leu3654_Ser3655insProSerCys
XM_017020539.1:c.10935_10936insCCTTCTTGT	XP_016876028.1:p.Leu3645_Ser3646insProSerCys
XM_024449337.1:c.10971_10972insCCTTCTTGT	XP_024305105.1:p.Leu3657_Ser3658insProSerCys
NM_014363.6:c.10944_10945insCCTTCTTGT MANE Select	NP_055178.3:p.Leu3648_Ser3649insProSerCys
NM_001278055.2:c.10503_10504insCCTTCTTGT	NP_001264984.1:p.Leu3501_Ser3502insProSerCys