Canonical Allele Identifier: CA2695217766

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358334_23358339del , CM000675.2:g.23358334_23358339del	GRCh38
NC_000013.10:g.23932473_23932478del , CM000675.1:g.23932473_23932478del	GRCh37
NC_000013.9:g.22830473_22830478del	NCBI36
NG_012342.1:g.80364_80369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.600_604+1del
ENST00000682944.1:c.600_604+1del
ENST00000683154.1:n.738_742+1del
ENST00000683210.1:c.600_604+1del
ENST00000683270.1:c.591_595+1del
ENST00000683367.1:c.591_595+1del
ENST00000683489.1:c.600_604+1del
ENST00000683680.1:c.600_604+1del
ENST00000684163.1:c.591_595+1del
ENST00000684196.1:n.2957_2961+1del
ENST00000684325.1:c.600_604+1del
ENST00000684385.1:c.600_604+1del
ENST00000684497.1:c.600_604+1del
ENST00000382292.9:c.600_604+1del
ENST00000423156.2:c.600_604+1del
ENST00000455470.6:c.600_604+1del
ENST00000382292.7:c.600_604+1del
ENST00000382298.7:c.600_604+1del
ENST00000402364.1:c.-1651_-1647+1del
ENST00000455470.5:c.298_302+1del
NM_001278055.1:c.159_163+1del
NM_014363.5:c.600_604+1del
XM_005266338.1:c.600_604+1del
XM_011535038.1:c.624_628+1del
XM_011535039.1:c.591_595+1del
XM_005266338.2:c.600_604+1del
XM_011535039.2:c.591_595+1del
XM_017020539.1:c.591_595+1del
XM_024449337.1:c.600_604+1del
NM_014363.6:c.600_604+1del
NM_001278055.2:c.159_163+1del