Canonical Allele Identifier: CA912980121

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909219_23909234del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335080_23335095del , CM000675.2:g.23335080_23335095del	GRCh38
NC_000013.10:g.23909219_23909234del , CM000675.1:g.23909219_23909234del	GRCh37
NC_000013.9:g.22807219_22807234del	NCBI36
NG_012342.1:g.103608_103623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18690_2185+18705del	ENSP00000508399.1:n.2185+18690_2185+18705del
ENST00000682944.1:c.8808_8823del	ENSP00000507173.1:p.Gln2937IlefsTer20
ENST00000683210.1:c.2185+18690_2185+18705del	ENSP00000506739.1:n.2185+18690_2185+18705del
ENST00000683270.1:c.6445+2327_6445+2342del	ENSP00000507624.1:n.6445+2327_6445+2342del
ENST00000683367.1:c.2177-5611_2177-5596del	ENSP00000507780.1:n.2177-5611_2177-5596del
ENST00000683489.1:c.2292-5143_2292-5128del	ENSP00000508403.1:n.2292-5143_2292-5128del
ENST00000683680.1:c.2319-5143_2319-5128del	ENSP00000507223.1:n.2319-5143_2319-5128del
ENST00000684163.1:c.2204-5611_2204-5596del	ENSP00000508262.1:n.2204-5611_2204-5596del
ENST00000684196.1:n.4543-5611_4543-5596del
ENST00000684325.1:c.2186-13421_2186-13406del	ENSP00000508121.1:n.2186-13421_2186-13406del
ENST00000684385.1:c.2221-5611_2221-5596del	ENSP00000507855.1:n.2221-5611_2221-5596del
ENST00000684497.1:c.2186-12451_2186-12436del	ENSP00000507057.1:n.2186-12451_2186-12436del
ENST00000382292.9:c.8781_8796del MANE Select	ENSP00000371729.3:p.Gln2928IlefsTer20
ENST00000423156.2:c.2186-5611_2186-5596del	ENSP00000390925.2:n.2186-5611_2186-5596del
ENST00000455470.6:c.2432-5611_2432-5596del	ENSP00000406565.2:n.2432-5611_2432-5596del
ENST00000382292.7:c.8781_8796del	ENSP00000371729.3:p.Gln2928IlefsTer20
ENST00000382298.7:c.8781_8796del	ENSP00000371735.3:p.Gln2928IlefsTer20
ENST00000402364.1:c.6531_6546del	ENSP00000385844.1:p.Gln2178IlefsTer20
ENST00000423156.1:c.1058-5611_1058-5596del	ENSP00000390925.1:n.1058-5611_1058-5596del
ENST00000455470.5:c.2130-5611_2130-5596del
NM_001278055.1:c.8340_8355del	NP_001264984.1:p.Gln2781IlefsTer20
NM_014363.5:c.8781_8796del	NP_055178.3:p.Gln2928IlefsTer20
XM_005266338.1:c.8808_8823del	XP_005266395.1:p.Gln2937IlefsTer20
XM_011535038.1:c.8832_8847del	XP_011533340.1:p.Gln2945IlefsTer20
XM_011535039.1:c.8799_8814del	XP_011533341.1:p.Gln2934IlefsTer20
XM_005266338.2:c.8808_8823del	XP_005266395.1:p.Gln2937IlefsTer20
XM_011535039.2:c.8799_8814del	XP_011533341.1:p.Gln2934IlefsTer20
XM_017020539.1:c.8772_8787del	XP_016876028.1:p.Gln2925IlefsTer20
XM_024449337.1:c.8808_8823del	XP_024305105.1:p.Gln2937IlefsTer20
NM_014363.6:c.8781_8796del MANE Select	NP_055178.3:p.Gln2928IlefsTer20
NM_001278055.2:c.8340_8355del	NP_001264984.1:p.Gln2781IlefsTer20