Canonical Allele Identifier: CA912980194

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911946_23911947del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337807_23337808del , CM000675.2:g.23337807_23337808del	GRCh38
NC_000013.10:g.23911946_23911947del , CM000675.1:g.23911946_23911947del	GRCh37
NC_000013.9:g.22809946_22809947del	NCBI36
NG_012342.1:g.100895_100896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15977_2185+15978del	ENSP00000508399.1:n.2185+15977_2185+15978del
ENST00000682944.1:c.6095_6096del	ENSP00000507173.1:p.Asn2032ThrfsTer5
ENST00000683210.1:c.2185+15977_2185+15978del	ENSP00000506739.1:n.2185+15977_2185+15978del
ENST00000683270.1:c.6059_6060del	ENSP00000507624.1:p.Asn2020ThrfsTer5
ENST00000683367.1:c.2177-8324_2177-8323del	ENSP00000507780.1:n.2177-8324_2177-8323del
ENST00000683489.1:c.2291+3777_2291+3778del	ENSP00000508403.1:n.2291+3777_2291+3778del
ENST00000683680.1:c.2318+3777_2318+3778del	ENSP00000507223.1:n.2318+3777_2318+3778del
ENST00000684163.1:c.2204-8324_2204-8323del	ENSP00000508262.1:n.2204-8324_2204-8323del
ENST00000684196.1:n.4543-8324_4543-8323del
ENST00000684325.1:c.2185+15977_2185+15978del	ENSP00000508121.1:n.2185+15977_2185+15978del
ENST00000684385.1:c.2221-8324_2221-8323del	ENSP00000507855.1:n.2221-8324_2221-8323del
ENST00000684497.1:c.2186-15164_2186-15163del	ENSP00000507057.1:n.2186-15164_2186-15163del
ENST00000382292.9:c.6068_6069del MANE Select	ENSP00000371729.3:p.Asn2023ThrfsTer5
ENST00000423156.2:c.2186-8324_2186-8323del	ENSP00000390925.2:n.2186-8324_2186-8323del
ENST00000455470.6:c.2431+3637_2431+3638del	ENSP00000406565.2:n.2431+3637_2431+3638del
ENST00000382292.7:c.6068_6069del	ENSP00000371729.3:p.Asn2023ThrfsTer5
ENST00000382298.7:c.6068_6069del	ENSP00000371735.3:p.Asn2023ThrfsTer5
ENST00000402364.1:c.3818_3819del	ENSP00000385844.1:p.Asn1273ThrfsTer5
ENST00000423156.1:c.1058-8324_1058-8323del	ENSP00000390925.1:n.1058-8324_1058-8323del
ENST00000455470.5:c.2129+3637_2129+3638del
NM_001278055.1:c.5627_5628del	NP_001264984.1:p.Asn1876ThrfsTer5
NM_014363.5:c.6068_6069del	NP_055178.3:p.Asn2023ThrfsTer5
XM_005266338.1:c.6095_6096del	XP_005266395.1:p.Asn2032ThrfsTer5
XM_011535038.1:c.6119_6120del	XP_011533340.1:p.Asn2040ThrfsTer5
XM_011535039.1:c.6086_6087del	XP_011533341.1:p.Asn2029ThrfsTer5
XM_005266338.2:c.6095_6096del	XP_005266395.1:p.Asn2032ThrfsTer5
XM_011535039.2:c.6086_6087del	XP_011533341.1:p.Asn2029ThrfsTer5
XM_017020539.1:c.6059_6060del	XP_016876028.1:p.Asn2020ThrfsTer5
XM_024449337.1:c.6095_6096del	XP_024305105.1:p.Asn2032ThrfsTer5
NM_014363.6:c.6068_6069del MANE Select	NP_055178.3:p.Asn2023ThrfsTer5
NM_001278055.2:c.5627_5628del	NP_001264984.1:p.Asn1876ThrfsTer5