Canonical Allele Identifier: CA2622328863

Gene: SACS

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330951_23330953del , CM000675.2:g.23330951_23330953del	GRCh38
NC_000013.10:g.23905090_23905092del , CM000675.1:g.23905090_23905092del	GRCh37
NC_000013.9:g.22803090_22803092del	NCBI36
NG_012342.1:g.107753_107755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18835_2186-18833del	ENSP00000508399.1:n.2186-18835_2186-18833del
ENST00000682944.1:c.12953_12955del	ENSP00000507173.1:p.Glu4318del
ENST00000683210.1:c.2185+22835_2185+22837del	ENSP00000506739.1:n.2185+22835_2185+22837del
ENST00000683270.1:c.6446-1466_6446-1464del	ENSP00000507624.1:n.6446-1466_6446-1464del
ENST00000683367.1:c.2177-1466_2177-1464del	ENSP00000507780.1:n.2177-1466_2177-1464del
ENST00000683489.1:c.2292-998_2292-996del	ENSP00000508403.1:n.2292-998_2292-996del
ENST00000683680.1:c.2319-998_2319-996del	ENSP00000507223.1:n.2319-998_2319-996del
ENST00000684163.1:c.2204-1466_2204-1464del	ENSP00000508262.1:n.2204-1466_2204-1464del
ENST00000684196.1:n.4543-1466_4543-1464del
ENST00000684325.1:c.2186-9276_2186-9274del	ENSP00000508121.1:n.2186-9276_2186-9274del
ENST00000684385.1:c.2221-1466_2221-1464del	ENSP00000507855.1:n.2221-1466_2221-1464del
ENST00000684497.1:c.2186-8306_2186-8304del	ENSP00000507057.1:n.2186-8306_2186-8304del
ENST00000382292.9:c.12926_12928del MANE Select	ENSP00000371729.3:p.Glu4309del
ENST00000423156.2:c.2186-1466_2186-1464del	ENSP00000390925.2:n.2186-1466_2186-1464del
ENST00000455470.6:c.2432-1466_2432-1464del	ENSP00000406565.2:n.2432-1466_2432-1464del
ENST00000382292.7:c.12926_12928del	ENSP00000371729.3:p.Glu4309del
ENST00000382298.7:c.12926_12928del	ENSP00000371735.3:p.Glu4309del
ENST00000402364.1:c.10676_10678del	ENSP00000385844.1:p.Glu3559del
ENST00000423156.1:c.1058-1466_1058-1464del	ENSP00000390925.1:n.1058-1466_1058-1464del
ENST00000455470.5:c.2130-1466_2130-1464del
NM_001278055.1:c.12485_12487del	NP_001264984.1:p.Glu4162del
NM_014363.5:c.12926_12928del	NP_055178.3:p.Glu4309del
XM_005266338.1:c.12953_12955del	XP_005266395.1:p.Glu4318del
XM_011535038.1:c.12977_12979del	XP_011533340.1:p.Glu4326del
XM_011535039.1:c.12944_12946del	XP_011533341.1:p.Glu4315del
XM_005266338.2:c.12953_12955del	XP_005266395.1:p.Glu4318del
XM_011535039.2:c.12944_12946del	XP_011533341.1:p.Glu4315del
XM_017020539.1:c.12917_12919del	XP_016876028.1:p.Glu4306del
XM_024449337.1:c.12953_12955del	XP_024305105.1:p.Glu4318del
NM_014363.6:c.12926_12928del MANE Select	NP_055178.3:p.Glu4309del
NM_001278055.2:c.12485_12487del	NP_001264984.1:p.Glu4162del