Canonical Allele Identifier: CA2622331277

Gene: SACS

Linked Data

• gnomAD v4: 13-23354974-TTGCCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354978_23354983del , CM000675.2:g.23354978_23354983del	GRCh38
NC_000013.10:g.23929117_23929122del , CM000675.1:g.23929117_23929122del	GRCh37
NC_000013.9:g.22827117_22827122del	NCBI36
NG_012342.1:g.83723_83728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1632_1637del	ENSP00000508399.1:p.His544_Trp545del
ENST00000682944.1:c.1632_1637del	ENSP00000507173.1:p.His544_Trp545del
ENST00000683154.1:n.1770_1775del
ENST00000683210.1:c.1632_1637del	ENSP00000506739.1:p.His544_Trp545del
ENST00000683270.1:c.1623_1628del	ENSP00000507624.1:p.His541_Trp542del
ENST00000683367.1:c.1623_1628del	ENSP00000507780.1:p.His541_Trp542del
ENST00000683489.1:c.1632_1637del	ENSP00000508403.1:p.His544_Trp545del
ENST00000683680.1:c.1632_1637del	ENSP00000507223.1:p.His544_Trp545del
ENST00000684163.1:c.1623_1628del	ENSP00000508262.1:p.His541_Trp542del
ENST00000684196.1:n.3989_3994del
ENST00000684325.1:c.1632_1637del	ENSP00000508121.1:p.His544_Trp545del
ENST00000684385.1:c.1632_1637del	ENSP00000507855.1:p.His544_Trp545del
ENST00000684497.1:c.1632_1637del	ENSP00000507057.1:p.His544_Trp545del
ENST00000382292.9:c.1632_1637del MANE Select	ENSP00000371729.3:p.His544_Trp545del
ENST00000423156.2:c.1632_1637del	ENSP00000390925.2:p.His544_Trp545del
ENST00000455470.6:c.1632_1637del	ENSP00000406565.2:p.His544_Trp545del
ENST00000382292.7:c.1632_1637del	ENSP00000371729.3:p.His544_Trp545del
ENST00000382298.7:c.1632_1637del	ENSP00000371735.3:p.His544_Trp545del
ENST00000402364.1:c.-619_-614del	ENSP00000385844.1:n.-619_-614del
ENST00000423156.1:c.504_509del	ENSP00000390925.1:p.His168_Trp169del
ENST00000455470.5:c.1330_1335del
NM_001278055.1:c.1191_1196del	NP_001264984.1:p.His397_Trp398del
NM_014363.5:c.1632_1637del	NP_055178.3:p.His544_Trp545del
XM_005266338.1:c.1632_1637del	XP_005266395.1:p.His544_Trp545del
XM_011535038.1:c.1656_1661del	XP_011533340.1:p.His552_Trp553del
XM_011535039.1:c.1623_1628del	XP_011533341.1:p.His541_Trp542del
XM_005266338.2:c.1632_1637del	XP_005266395.1:p.His544_Trp545del
XM_011535039.2:c.1623_1628del	XP_011533341.1:p.His541_Trp542del
XM_017020539.1:c.1623_1628del	XP_016876028.1:p.His541_Trp542del
XM_024449337.1:c.1632_1637del	XP_024305105.1:p.His544_Trp545del
NM_014363.6:c.1632_1637del MANE Select	NP_055178.3:p.His544_Trp545del
NM_001278055.2:c.1191_1196del	NP_001264984.1:p.His397_Trp398del