Canonical Allele Identifier: CA912980192

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23911842_23911843del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337703_23337704del , CM000675.2:g.23337703_23337704del	GRCh38
NC_000013.10:g.23911842_23911843del , CM000675.1:g.23911842_23911843del	GRCh37
NC_000013.9:g.22809842_22809843del	NCBI36
NG_012342.1:g.101000_101001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16082_2185+16083del	ENSP00000508399.1:n.2185+16082_2185+16083del
ENST00000682944.1:c.6200_6201del	ENSP00000507173.1:p.Ser2067Ter
ENST00000683210.1:c.2185+16082_2185+16083del	ENSP00000506739.1:n.2185+16082_2185+16083del
ENST00000683270.1:c.6164_6165del	ENSP00000507624.1:p.Ser2055Ter
ENST00000683367.1:c.2177-8219_2177-8218del	ENSP00000507780.1:n.2177-8219_2177-8218del
ENST00000683489.1:c.2291+3882_2291+3883del	ENSP00000508403.1:n.2291+3882_2291+3883del
ENST00000683680.1:c.2318+3882_2318+3883del	ENSP00000507223.1:n.2318+3882_2318+3883del
ENST00000684163.1:c.2204-8219_2204-8218del	ENSP00000508262.1:n.2204-8219_2204-8218del
ENST00000684196.1:n.4543-8219_4543-8218del
ENST00000684325.1:c.2186-16029_2186-16028del	ENSP00000508121.1:n.2186-16029_2186-16028del
ENST00000684385.1:c.2221-8219_2221-8218del	ENSP00000507855.1:n.2221-8219_2221-8218del
ENST00000684497.1:c.2186-15059_2186-15058del	ENSP00000507057.1:n.2186-15059_2186-15058del
ENST00000382292.9:c.6173_6174del MANE Select	ENSP00000371729.3:p.Ser2058Ter
ENST00000423156.2:c.2186-8219_2186-8218del	ENSP00000390925.2:n.2186-8219_2186-8218del
ENST00000455470.6:c.2431+3742_2431+3743del	ENSP00000406565.2:n.2431+3742_2431+3743del
ENST00000382292.7:c.6173_6174del	ENSP00000371729.3:p.Ser2058Ter
ENST00000382298.7:c.6173_6174del	ENSP00000371735.3:p.Ser2058Ter
ENST00000402364.1:c.3923_3924del	ENSP00000385844.1:p.Ser1308Ter
ENST00000423156.1:c.1058-8219_1058-8218del	ENSP00000390925.1:n.1058-8219_1058-8218del
ENST00000455470.5:c.2129+3742_2129+3743del
NM_001278055.1:c.5732_5733del	NP_001264984.1:p.Ser1911Ter
NM_014363.5:c.6173_6174del	NP_055178.3:p.Ser2058Ter
XM_005266338.1:c.6200_6201del	XP_005266395.1:p.Ser2067Ter
XM_011535038.1:c.6224_6225del	XP_011533340.1:p.Ser2075Ter
XM_011535039.1:c.6191_6192del	XP_011533341.1:p.Ser2064Ter
XM_005266338.2:c.6200_6201del	XP_005266395.1:p.Ser2067Ter
XM_011535039.2:c.6191_6192del	XP_011533341.1:p.Ser2064Ter
XM_017020539.1:c.6164_6165del	XP_016876028.1:p.Ser2055Ter
XM_024449337.1:c.6200_6201del	XP_024305105.1:p.Ser2067Ter
NM_014363.6:c.6173_6174del MANE Select	NP_055178.3:p.Ser2058Ter
NM_001278055.2:c.5732_5733del	NP_001264984.1:p.Ser1911Ter