Canonical Allele Identifier: CA912980221

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909126_23909127del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334987_23334988del , CM000675.2:g.23334987_23334988del	GRCh38
NC_000013.10:g.23909126_23909127del , CM000675.1:g.23909126_23909127del	GRCh37
NC_000013.9:g.22807126_22807127del	NCBI36
NG_012342.1:g.103715_103716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18797_2185+18798del	ENSP00000508399.1:n.2185+18797_2185+18798del
ENST00000682944.1:c.8915_8916del	ENSP00000507173.1:p.Phe2972SerfsTer3
ENST00000683210.1:c.2185+18797_2185+18798del	ENSP00000506739.1:n.2185+18797_2185+18798del
ENST00000683270.1:c.6445+2434_6445+2435del	ENSP00000507624.1:n.6445+2434_6445+2435del
ENST00000683367.1:c.2177-5504_2177-5503del	ENSP00000507780.1:n.2177-5504_2177-5503del
ENST00000683489.1:c.2292-5036_2292-5035del	ENSP00000508403.1:n.2292-5036_2292-5035del
ENST00000683680.1:c.2319-5036_2319-5035del	ENSP00000507223.1:n.2319-5036_2319-5035del
ENST00000684163.1:c.2204-5504_2204-5503del	ENSP00000508262.1:n.2204-5504_2204-5503del
ENST00000684196.1:n.4543-5504_4543-5503del
ENST00000684325.1:c.2186-13314_2186-13313del	ENSP00000508121.1:n.2186-13314_2186-13313del
ENST00000684385.1:c.2221-5504_2221-5503del	ENSP00000507855.1:n.2221-5504_2221-5503del
ENST00000684497.1:c.2186-12344_2186-12343del	ENSP00000507057.1:n.2186-12344_2186-12343del
ENST00000382292.9:c.8888_8889del MANE Select	ENSP00000371729.3:p.Phe2963SerfsTer3
ENST00000423156.2:c.2186-5504_2186-5503del	ENSP00000390925.2:n.2186-5504_2186-5503del
ENST00000455470.6:c.2432-5504_2432-5503del	ENSP00000406565.2:n.2432-5504_2432-5503del
ENST00000382292.7:c.8888_8889del	ENSP00000371729.3:p.Phe2963SerfsTer3
ENST00000382298.7:c.8888_8889del	ENSP00000371735.3:p.Phe2963SerfsTer3
ENST00000402364.1:c.6638_6639del	ENSP00000385844.1:p.Phe2213SerfsTer3
ENST00000423156.1:c.1058-5504_1058-5503del	ENSP00000390925.1:n.1058-5504_1058-5503del
ENST00000455470.5:c.2130-5504_2130-5503del
NM_001278055.1:c.8447_8448del	NP_001264984.1:p.Phe2816SerfsTer3
NM_014363.5:c.8888_8889del	NP_055178.3:p.Phe2963SerfsTer3
XM_005266338.1:c.8915_8916del	XP_005266395.1:p.Phe2972SerfsTer3
XM_011535038.1:c.8939_8940del	XP_011533340.1:p.Phe2980SerfsTer3
XM_011535039.1:c.8906_8907del	XP_011533341.1:p.Phe2969SerfsTer3
XM_005266338.2:c.8915_8916del	XP_005266395.1:p.Phe2972SerfsTer3
XM_011535039.2:c.8906_8907del	XP_011533341.1:p.Phe2969SerfsTer3
XM_017020539.1:c.8879_8880del	XP_016876028.1:p.Phe2960SerfsTer3
XM_024449337.1:c.8915_8916del	XP_024305105.1:p.Phe2972SerfsTer3
NM_014363.6:c.8888_8889del MANE Select	NP_055178.3:p.Phe2963SerfsTer3
NM_001278055.2:c.8447_8448del	NP_001264984.1:p.Phe2816SerfsTer3