Canonical Allele Identifier: CA912980147

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910094_23910100del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335955_23335961del , CM000675.2:g.23335955_23335961del	GRCh38
NC_000013.10:g.23910094_23910100del , CM000675.1:g.23910094_23910100del	GRCh37
NC_000013.9:g.22808094_22808100del	NCBI36
NG_012342.1:g.102742_102748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17824_2185+17830del	ENSP00000508399.1:n.2185+17824_2185+17830del
ENST00000682944.1:c.7942_7948del	ENSP00000507173.1:p.Ile2648AlafsTer?
ENST00000683210.1:c.2185+17824_2185+17830del	ENSP00000506739.1:n.2185+17824_2185+17830del
ENST00000683270.1:c.6445+1461_6445+1467del	ENSP00000507624.1:n.6445+1461_6445+1467del
ENST00000683367.1:c.2177-6477_2177-6471del	ENSP00000507780.1:n.2177-6477_2177-6471del
ENST00000683489.1:c.2291+5624_2291+5630del	ENSP00000508403.1:n.2291+5624_2291+5630del
ENST00000683680.1:c.2318+5624_2318+5630del	ENSP00000507223.1:n.2318+5624_2318+5630del
ENST00000684163.1:c.2204-6477_2204-6471del	ENSP00000508262.1:n.2204-6477_2204-6471del
ENST00000684196.1:n.4543-6477_4543-6471del
ENST00000684325.1:c.2186-14287_2186-14281del	ENSP00000508121.1:n.2186-14287_2186-14281del
ENST00000684385.1:c.2221-6477_2221-6471del	ENSP00000507855.1:n.2221-6477_2221-6471del
ENST00000684497.1:c.2186-13317_2186-13311del	ENSP00000507057.1:n.2186-13317_2186-13311del
ENST00000382292.9:c.7915_7921del MANE Select	ENSP00000371729.3:p.Ile2639AlafsTer?
ENST00000423156.2:c.2186-6477_2186-6471del	ENSP00000390925.2:n.2186-6477_2186-6471del
ENST00000455470.6:c.2431+5484_2431+5490del	ENSP00000406565.2:n.2431+5484_2431+5490del
ENST00000382292.7:c.7915_7921del	ENSP00000371729.3:p.Ile2639AlafsTer?
ENST00000382298.7:c.7915_7921del	ENSP00000371735.3:p.Ile2639AlafsTer?
ENST00000402364.1:c.5665_5671del	ENSP00000385844.1:p.Ile1889AlafsTer?
ENST00000423156.1:c.1058-6477_1058-6471del	ENSP00000390925.1:n.1058-6477_1058-6471del
ENST00000455470.5:c.2129+5484_2129+5490del
NM_001278055.1:c.7474_7480del	NP_001264984.1:p.Ile2492AlafsTer?
NM_014363.5:c.7915_7921del	NP_055178.3:p.Ile2639AlafsTer?
XM_005266338.1:c.7942_7948del	XP_005266395.1:p.Ile2648AlafsTer?
XM_011535038.1:c.7966_7972del	XP_011533340.1:p.Ile2656AlafsTer?
XM_011535039.1:c.7933_7939del	XP_011533341.1:p.Ile2645AlafsTer?
XM_005266338.2:c.7942_7948del	XP_005266395.1:p.Ile2648AlafsTer?
XM_011535039.2:c.7933_7939del	XP_011533341.1:p.Ile2645AlafsTer?
XM_017020539.1:c.7906_7912del	XP_016876028.1:p.Ile2636AlafsTer?
XM_024449337.1:c.7942_7948del	XP_024305105.1:p.Ile2648AlafsTer?
NM_014363.6:c.7915_7921del MANE Select	NP_055178.3:p.Ile2639AlafsTer?
NM_001278055.2:c.7474_7480del	NP_001264984.1:p.Ile2492AlafsTer?