Canonical Allele Identifier: CA912980205

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23908250_23908252del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334111_23334113del , CM000675.2:g.23334111_23334113del	GRCh38
NC_000013.10:g.23908250_23908252del , CM000675.1:g.23908250_23908252del	GRCh37
NC_000013.9:g.22806250_22806252del	NCBI36
NG_012342.1:g.104590_104592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19672_2185+19674del	ENSP00000508399.1:n.2185+19672_2185+19674del
ENST00000682944.1:c.9790_9792del	ENSP00000507173.1:p.Val3264del
ENST00000683210.1:c.2185+19672_2185+19674del	ENSP00000506739.1:n.2185+19672_2185+19674del
ENST00000683270.1:c.6445+3309_6445+3311del	ENSP00000507624.1:n.6445+3309_6445+3311del
ENST00000683367.1:c.2177-4629_2177-4627del	ENSP00000507780.1:n.2177-4629_2177-4627del
ENST00000683489.1:c.2292-4161_2292-4159del	ENSP00000508403.1:n.2292-4161_2292-4159del
ENST00000683680.1:c.2319-4161_2319-4159del	ENSP00000507223.1:n.2319-4161_2319-4159del
ENST00000684163.1:c.2204-4629_2204-4627del	ENSP00000508262.1:n.2204-4629_2204-4627del
ENST00000684196.1:n.4543-4629_4543-4627del
ENST00000684325.1:c.2186-12439_2186-12437del	ENSP00000508121.1:n.2186-12439_2186-12437del
ENST00000684385.1:c.2221-4629_2221-4627del	ENSP00000507855.1:n.2221-4629_2221-4627del
ENST00000684497.1:c.2186-11469_2186-11467del	ENSP00000507057.1:n.2186-11469_2186-11467del
ENST00000382292.9:c.9763_9765del MANE Select	ENSP00000371729.3:p.Val3255del
ENST00000423156.2:c.2186-4629_2186-4627del	ENSP00000390925.2:n.2186-4629_2186-4627del
ENST00000455470.6:c.2432-4629_2432-4627del	ENSP00000406565.2:n.2432-4629_2432-4627del
ENST00000382292.7:c.9763_9765del	ENSP00000371729.3:p.Val3255del
ENST00000382298.7:c.9763_9765del	ENSP00000371735.3:p.Val3255del
ENST00000402364.1:c.7513_7515del	ENSP00000385844.1:p.Val2505del
ENST00000423156.1:c.1058-4629_1058-4627del	ENSP00000390925.1:n.1058-4629_1058-4627del
ENST00000455470.5:c.2130-4629_2130-4627del
NM_001278055.1:c.9322_9324del	NP_001264984.1:p.Val3108del
NM_014363.5:c.9763_9765del	NP_055178.3:p.Val3255del
XM_005266338.1:c.9790_9792del	XP_005266395.1:p.Val3264del
XM_011535038.1:c.9814_9816del	XP_011533340.1:p.Val3272del
XM_011535039.1:c.9781_9783del	XP_011533341.1:p.Val3261del
XM_005266338.2:c.9790_9792del	XP_005266395.1:p.Val3264del
XM_011535039.2:c.9781_9783del	XP_011533341.1:p.Val3261del
XM_017020539.1:c.9754_9756del	XP_016876028.1:p.Val3252del
XM_024449337.1:c.9790_9792del	XP_024305105.1:p.Val3264del
NM_014363.6:c.9763_9765del MANE Select	NP_055178.3:p.Val3255del
NM_001278055.2:c.9322_9324del	NP_001264984.1:p.Val3108del