Canonical Allele Identifier: CA483160038

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23909223_23909224insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335084_23335085insA , CM000675.2:g.23335084_23335085insA	GRCh38
NC_000013.10:g.23909223_23909224insA , CM000675.1:g.23909223_23909224insA	GRCh37
NC_000013.9:g.22807223_22807224insA	NCBI36
NG_012342.1:g.103618_103619insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18700_2185+18701insT	ENSP00000508399.1:n.2185+18700_2185+18701insT
ENST00000682944.1:c.8818_8819insT	ENSP00000507173.1:p.Lys2940IlefsTer8
ENST00000683210.1:c.2185+18700_2185+18701insT	ENSP00000506739.1:n.2185+18700_2185+18701insT
ENST00000683270.1:c.6445+2337_6445+2338insT	ENSP00000507624.1:n.6445+2337_6445+2338insT
ENST00000683367.1:c.2177-5601_2177-5600insT	ENSP00000507780.1:n.2177-5601_2177-5600insT
ENST00000683489.1:c.2292-5133_2292-5132insT	ENSP00000508403.1:n.2292-5133_2292-5132insT
ENST00000683680.1:c.2319-5133_2319-5132insT	ENSP00000507223.1:n.2319-5133_2319-5132insT
ENST00000684163.1:c.2204-5601_2204-5600insT	ENSP00000508262.1:n.2204-5601_2204-5600insT
ENST00000684196.1:n.4543-5601_4543-5600insT
ENST00000684325.1:c.2186-13411_2186-13410insT	ENSP00000508121.1:n.2186-13411_2186-13410insT
ENST00000684385.1:c.2221-5601_2221-5600insT	ENSP00000507855.1:n.2221-5601_2221-5600insT
ENST00000684497.1:c.2186-12441_2186-12440insT	ENSP00000507057.1:n.2186-12441_2186-12440insT
ENST00000382292.9:c.8791_8792insT MANE Select	ENSP00000371729.3:p.Lys2931IlefsTer8
ENST00000423156.2:c.2186-5601_2186-5600insT	ENSP00000390925.2:n.2186-5601_2186-5600insT
ENST00000455470.6:c.2432-5601_2432-5600insT	ENSP00000406565.2:n.2432-5601_2432-5600insT
ENST00000382292.7:c.8791_8792insT	ENSP00000371729.3:p.Lys2931IlefsTer8
ENST00000382298.7:c.8791_8792insT	ENSP00000371735.3:p.Lys2931IlefsTer8
ENST00000402364.1:c.6541_6542insT	ENSP00000385844.1:p.Lys2181IlefsTer8
ENST00000423156.1:c.1058-5601_1058-5600insT	ENSP00000390925.1:n.1058-5601_1058-5600insT
ENST00000455470.5:c.2130-5601_2130-5600insT
NM_001278055.1:c.8350_8351insT	NP_001264984.1:p.Lys2784IlefsTer8
NM_014363.5:c.8791_8792insT	NP_055178.3:p.Lys2931IlefsTer8
XM_005266338.1:c.8818_8819insT	XP_005266395.1:p.Lys2940IlefsTer8
XM_011535038.1:c.8842_8843insT	XP_011533340.1:p.Lys2948IlefsTer8
XM_011535039.1:c.8809_8810insT	XP_011533341.1:p.Lys2937IlefsTer8
XM_005266338.2:c.8818_8819insT	XP_005266395.1:p.Lys2940IlefsTer8
XM_011535039.2:c.8809_8810insT	XP_011533341.1:p.Lys2937IlefsTer8
XM_017020539.1:c.8782_8783insT	XP_016876028.1:p.Lys2928IlefsTer8
XM_024449337.1:c.8818_8819insT	XP_024305105.1:p.Lys2940IlefsTer8
NM_014363.6:c.8791_8792insT MANE Select	NP_055178.3:p.Lys2931IlefsTer8
NM_001278055.2:c.8350_8351insT	NP_001264984.1:p.Lys2784IlefsTer8