Canonical Allele Identifier: CA2622328901

Gene: SACS

Linked Data

• gnomAD v4: 13-23333917-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333918_23333919del , CM000675.2:g.23333918_23333919del	GRCh38
NC_000013.10:g.23908057_23908058del , CM000675.1:g.23908057_23908058del	GRCh37
NC_000013.9:g.22806057_22806058del	NCBI36
NG_012342.1:g.104784_104785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19866_2185+19867del	ENSP00000508399.1:n.2185+19866_2185+19867del
ENST00000682944.1:c.9984_9985del	ENSP00000507173.1:p.Lys3328AsnfsTer?
ENST00000683210.1:c.2185+19866_2185+19867del	ENSP00000506739.1:n.2185+19866_2185+19867del
ENST00000683270.1:c.6445+3503_6445+3504del	ENSP00000507624.1:n.6445+3503_6445+3504del
ENST00000683367.1:c.2177-4435_2177-4434del	ENSP00000507780.1:n.2177-4435_2177-4434del
ENST00000683489.1:c.2292-3967_2292-3966del	ENSP00000508403.1:n.2292-3967_2292-3966del
ENST00000683680.1:c.2319-3967_2319-3966del	ENSP00000507223.1:n.2319-3967_2319-3966del
ENST00000684163.1:c.2204-4435_2204-4434del	ENSP00000508262.1:n.2204-4435_2204-4434del
ENST00000684196.1:n.4543-4435_4543-4434del
ENST00000684325.1:c.2186-12245_2186-12244del	ENSP00000508121.1:n.2186-12245_2186-12244del
ENST00000684385.1:c.2221-4435_2221-4434del	ENSP00000507855.1:n.2221-4435_2221-4434del
ENST00000684497.1:c.2186-11275_2186-11274del	ENSP00000507057.1:n.2186-11275_2186-11274del
ENST00000382292.9:c.9957_9958del MANE Select	ENSP00000371729.3:p.Lys3319AsnfsTer?
ENST00000423156.2:c.2186-4435_2186-4434del	ENSP00000390925.2:n.2186-4435_2186-4434del
ENST00000455470.6:c.2432-4435_2432-4434del	ENSP00000406565.2:n.2432-4435_2432-4434del
ENST00000382292.7:c.9957_9958del	ENSP00000371729.3:p.Lys3319AsnfsTer?
ENST00000382298.7:c.9957_9958del	ENSP00000371735.3:p.Lys3319AsnfsTer?
ENST00000402364.1:c.7707_7708del	ENSP00000385844.1:p.Lys2569AsnfsTer?
ENST00000423156.1:c.1058-4435_1058-4434del	ENSP00000390925.1:n.1058-4435_1058-4434del
ENST00000455470.5:c.2130-4435_2130-4434del
NM_001278055.1:c.9516_9517del	NP_001264984.1:p.Lys3172AsnfsTer?
NM_014363.5:c.9957_9958del	NP_055178.3:p.Lys3319AsnfsTer?
XM_005266338.1:c.9984_9985del	XP_005266395.1:p.Lys3328AsnfsTer?
XM_011535038.1:c.10008_10009del	XP_011533340.1:p.Lys3336AsnfsTer?
XM_011535039.1:c.9975_9976del	XP_011533341.1:p.Lys3325AsnfsTer?
XM_005266338.2:c.9984_9985del	XP_005266395.1:p.Lys3328AsnfsTer?
XM_011535039.2:c.9975_9976del	XP_011533341.1:p.Lys3325AsnfsTer?
XM_017020539.1:c.9948_9949del	XP_016876028.1:p.Lys3316AsnfsTer?
XM_024449337.1:c.9984_9985del	XP_024305105.1:p.Lys3328AsnfsTer?
NM_014363.6:c.9957_9958del MANE Select	NP_055178.3:p.Lys3319AsnfsTer?
NM_001278055.2:c.9516_9517del	NP_001264984.1:p.Lys3172AsnfsTer?