Canonical Allele Identifier: CA912980136

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23913846_23913847del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339707_23339708del , CM000675.2:g.23339707_23339708del	GRCh38
NC_000013.10:g.23913846_23913847del , CM000675.1:g.23913846_23913847del	GRCh37
NC_000013.9:g.22811846_22811847del	NCBI36
NG_012342.1:g.98995_98996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14077_2185+14078del	ENSP00000508399.1:n.2185+14077_2185+14078del
ENST00000682944.1:c.4195_4196del	ENSP00000507173.1:p.Leu1399TyrfsTer12
ENST00000683210.1:c.2185+14077_2185+14078del	ENSP00000506739.1:n.2185+14077_2185+14078del
ENST00000683270.1:c.4159_4160del	ENSP00000507624.1:p.Leu1387TyrfsTer12
ENST00000683367.1:c.2177-10224_2177-10223del	ENSP00000507780.1:n.2177-10224_2177-10223del
ENST00000683489.1:c.2291+1877_2291+1878del	ENSP00000508403.1:n.2291+1877_2291+1878del
ENST00000683680.1:c.2318+1877_2318+1878del	ENSP00000507223.1:n.2318+1877_2318+1878del
ENST00000684163.1:c.2203+7103_2203+7104del	ENSP00000508262.1:n.2203+7103_2203+7104del
ENST00000684196.1:n.4543-10224_4543-10223del
ENST00000684325.1:c.2185+14077_2185+14078del	ENSP00000508121.1:n.2185+14077_2185+14078del
ENST00000684385.1:c.2220+7103_2220+7104del	ENSP00000507855.1:n.2220+7103_2220+7104del
ENST00000684497.1:c.2185+14077_2185+14078del	ENSP00000507057.1:n.2185+14077_2185+14078del
ENST00000382292.9:c.4168_4169del MANE Select	ENSP00000371729.3:p.Leu1390TyrfsTer12
ENST00000423156.2:c.2186-10224_2186-10223del	ENSP00000390925.2:n.2186-10224_2186-10223del
ENST00000455470.6:c.2431+1737_2431+1738del	ENSP00000406565.2:n.2431+1737_2431+1738del
ENST00000382292.7:c.4168_4169del	ENSP00000371729.3:p.Leu1390TyrfsTer12
ENST00000382298.7:c.4168_4169del	ENSP00000371735.3:p.Leu1390TyrfsTer12
ENST00000402364.1:c.1918_1919del	ENSP00000385844.1:p.Leu640TyrfsTer12
ENST00000423156.1:c.1058-10224_1058-10223del	ENSP00000390925.1:n.1058-10224_1058-10223del
ENST00000455470.5:c.2129+1737_2129+1738del
NM_001278055.1:c.3727_3728del	NP_001264984.1:p.Leu1243TyrfsTer12
NM_014363.5:c.4168_4169del	NP_055178.3:p.Leu1390TyrfsTer12
XM_005266338.1:c.4195_4196del	XP_005266395.1:p.Leu1399TyrfsTer12
XM_011535038.1:c.4219_4220del	XP_011533340.1:p.Leu1407TyrfsTer12
XM_011535039.1:c.4186_4187del	XP_011533341.1:p.Leu1396TyrfsTer12
XM_005266338.2:c.4195_4196del	XP_005266395.1:p.Leu1399TyrfsTer12
XM_011535039.2:c.4186_4187del	XP_011533341.1:p.Leu1396TyrfsTer12
XM_017020539.1:c.4159_4160del	XP_016876028.1:p.Leu1387TyrfsTer12
XM_024449337.1:c.4195_4196del	XP_024305105.1:p.Leu1399TyrfsTer12
NM_014363.6:c.4168_4169del MANE Select	NP_055178.3:p.Leu1390TyrfsTer12
NM_001278055.2:c.3727_3728del	NP_001264984.1:p.Leu1243TyrfsTer12