Canonical Allele Identifier: CA912980209

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912415_23912417del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338276_23338278del , CM000675.2:g.23338276_23338278del	GRCh38
NC_000013.10:g.23912415_23912417del , CM000675.1:g.23912415_23912417del	GRCh37
NC_000013.9:g.22810415_22810417del	NCBI36
NG_012342.1:g.100425_100427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15507_2185+15509del	ENSP00000508399.1:n.2185+15507_2185+15509del
ENST00000682944.1:c.5625_5627del	ENSP00000507173.1:p.Ile1876del
ENST00000683210.1:c.2185+15507_2185+15509del	ENSP00000506739.1:n.2185+15507_2185+15509del
ENST00000683270.1:c.5589_5591del	ENSP00000507624.1:p.Ile1864del
ENST00000683367.1:c.2177-8794_2177-8792del	ENSP00000507780.1:n.2177-8794_2177-8792del
ENST00000683489.1:c.2291+3307_2291+3309del	ENSP00000508403.1:n.2291+3307_2291+3309del
ENST00000683680.1:c.2318+3307_2318+3309del	ENSP00000507223.1:n.2318+3307_2318+3309del
ENST00000684163.1:c.2203+8533_2203+8535del	ENSP00000508262.1:n.2203+8533_2203+8535del
ENST00000684196.1:n.4543-8794_4543-8792del
ENST00000684325.1:c.2185+15507_2185+15509del	ENSP00000508121.1:n.2185+15507_2185+15509del
ENST00000684385.1:c.2220+8533_2220+8535del	ENSP00000507855.1:n.2220+8533_2220+8535del
ENST00000684497.1:c.2185+15507_2185+15509del	ENSP00000507057.1:n.2185+15507_2185+15509del
ENST00000382292.9:c.5598_5600del MANE Select	ENSP00000371729.3:p.Ile1867del
ENST00000423156.2:c.2186-8794_2186-8792del	ENSP00000390925.2:n.2186-8794_2186-8792del
ENST00000455470.6:c.2431+3167_2431+3169del	ENSP00000406565.2:n.2431+3167_2431+3169del
ENST00000382292.7:c.5598_5600del	ENSP00000371729.3:p.Ile1867del
ENST00000382298.7:c.5598_5600del	ENSP00000371735.3:p.Ile1867del
ENST00000402364.1:c.3348_3350del	ENSP00000385844.1:p.Ile1117del
ENST00000423156.1:c.1058-8794_1058-8792del	ENSP00000390925.1:n.1058-8794_1058-8792del
ENST00000455470.5:c.2129+3167_2129+3169del
NM_001278055.1:c.5157_5159del	NP_001264984.1:p.Ile1720del
NM_014363.5:c.5598_5600del	NP_055178.3:p.Ile1867del
XM_005266338.1:c.5625_5627del	XP_005266395.1:p.Ile1876del
XM_011535038.1:c.5649_5651del	XP_011533340.1:p.Ile1884del
XM_011535039.1:c.5616_5618del	XP_011533341.1:p.Ile1873del
XM_005266338.2:c.5625_5627del	XP_005266395.1:p.Ile1876del
XM_011535039.2:c.5616_5618del	XP_011533341.1:p.Ile1873del
XM_017020539.1:c.5589_5591del	XP_016876028.1:p.Ile1864del
XM_024449337.1:c.5625_5627del	XP_024305105.1:p.Ile1876del
NM_014363.6:c.5598_5600del MANE Select	NP_055178.3:p.Ile1867del
NM_001278055.2:c.5157_5159del	NP_001264984.1:p.Ile1720del