Canonical Allele Identifier: CA912980154

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910213_23910216del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336074_23336077del , CM000675.2:g.23336074_23336077del	GRCh38
NC_000013.10:g.23910213_23910216del , CM000675.1:g.23910213_23910216del	GRCh37
NC_000013.9:g.22808213_22808216del	NCBI36
NG_012342.1:g.102626_102629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17708_2185+17711del	ENSP00000508399.1:n.2185+17708_2185+17711del
ENST00000682944.1:c.7826_7829del	ENSP00000507173.1:p.Asp2609ValfsTer24
ENST00000683210.1:c.2185+17708_2185+17711del	ENSP00000506739.1:n.2185+17708_2185+17711del
ENST00000683270.1:c.6445+1345_6445+1348del	ENSP00000507624.1:n.6445+1345_6445+1348del
ENST00000683367.1:c.2177-6593_2177-6590del	ENSP00000507780.1:n.2177-6593_2177-6590del
ENST00000683489.1:c.2291+5508_2291+5511del	ENSP00000508403.1:n.2291+5508_2291+5511del
ENST00000683680.1:c.2318+5508_2318+5511del	ENSP00000507223.1:n.2318+5508_2318+5511del
ENST00000684163.1:c.2204-6593_2204-6590del	ENSP00000508262.1:n.2204-6593_2204-6590del
ENST00000684196.1:n.4543-6593_4543-6590del
ENST00000684325.1:c.2186-14403_2186-14400del	ENSP00000508121.1:n.2186-14403_2186-14400del
ENST00000684385.1:c.2221-6593_2221-6590del	ENSP00000507855.1:n.2221-6593_2221-6590del
ENST00000684497.1:c.2186-13433_2186-13430del	ENSP00000507057.1:n.2186-13433_2186-13430del
ENST00000382292.9:c.7799_7802del MANE Select	ENSP00000371729.3:p.Asp2600ValfsTer24
ENST00000423156.2:c.2186-6593_2186-6590del	ENSP00000390925.2:n.2186-6593_2186-6590del
ENST00000455470.6:c.2431+5368_2431+5371del	ENSP00000406565.2:n.2431+5368_2431+5371del
ENST00000382292.7:c.7799_7802del	ENSP00000371729.3:p.Asp2600ValfsTer24
ENST00000382298.7:c.7799_7802del	ENSP00000371735.3:p.Asp2600ValfsTer24
ENST00000402364.1:c.5549_5552del	ENSP00000385844.1:p.Asp1850ValfsTer24
ENST00000423156.1:c.1058-6593_1058-6590del	ENSP00000390925.1:n.1058-6593_1058-6590del
ENST00000455470.5:c.2129+5368_2129+5371del
NM_001278055.1:c.7358_7361del	NP_001264984.1:p.Asp2453ValfsTer24
NM_014363.5:c.7799_7802del	NP_055178.3:p.Asp2600ValfsTer24
XM_005266338.1:c.7826_7829del	XP_005266395.1:p.Asp2609ValfsTer24
XM_011535038.1:c.7850_7853del	XP_011533340.1:p.Asp2617ValfsTer24
XM_011535039.1:c.7817_7820del	XP_011533341.1:p.Asp2606ValfsTer24
XM_005266338.2:c.7826_7829del	XP_005266395.1:p.Asp2609ValfsTer24
XM_011535039.2:c.7817_7820del	XP_011533341.1:p.Asp2606ValfsTer24
XM_017020539.1:c.7790_7793del	XP_016876028.1:p.Asp2597ValfsTer24
XM_024449337.1:c.7826_7829del	XP_024305105.1:p.Asp2609ValfsTer24
NM_014363.6:c.7799_7802del MANE Select	NP_055178.3:p.Asp2600ValfsTer24
NM_001278055.2:c.7358_7361del	NP_001264984.1:p.Asp2453ValfsTer24