Canonical Allele Identifier: CA658823504

Gene: SACS

Linked Data

• ClinVar Variation Id: 555612
• ClinVar RCV Id: RCV000671465
• dbSNP Id: rs1555251315
• MyVariant Identifiers: chr13:g.23336075_23336077del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336079_23336081del , CM000675.2:g.23336079_23336081del	GRCh38
NC_000013.10:g.23910218_23910220del , CM000675.1:g.23910218_23910220del	GRCh37
NC_000013.9:g.22808218_22808220del	NCBI36
NG_012342.1:g.102626_102628del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17708_2185+17710del	ENSP00000508399.1:n.2185+17708_2185+17710del
ENST00000682944.1:c.7826_7828del	ENSP00000507173.1:p.Asp2609del
ENST00000683210.1:c.2185+17708_2185+17710del	ENSP00000506739.1:n.2185+17708_2185+17710del
ENST00000683270.1:c.6445+1345_6445+1347del	ENSP00000507624.1:n.6445+1345_6445+1347del
ENST00000683367.1:c.2177-6593_2177-6591del	ENSP00000507780.1:n.2177-6593_2177-6591del
ENST00000683489.1:c.2291+5508_2291+5510del	ENSP00000508403.1:n.2291+5508_2291+5510del
ENST00000683680.1:c.2318+5508_2318+5510del	ENSP00000507223.1:n.2318+5508_2318+5510del
ENST00000684163.1:c.2204-6593_2204-6591del	ENSP00000508262.1:n.2204-6593_2204-6591del
ENST00000684196.1:n.4543-6593_4543-6591del
ENST00000684325.1:c.2186-14403_2186-14401del	ENSP00000508121.1:n.2186-14403_2186-14401del
ENST00000684385.1:c.2221-6593_2221-6591del	ENSP00000507855.1:n.2221-6593_2221-6591del
ENST00000684497.1:c.2186-13433_2186-13431del	ENSP00000507057.1:n.2186-13433_2186-13431del
ENST00000382292.9:c.7799_7801del MANE Select	ENSP00000371729.3:p.Asp2600del
ENST00000423156.2:c.2186-6593_2186-6591del	ENSP00000390925.2:n.2186-6593_2186-6591del
ENST00000455470.6:c.2431+5368_2431+5370del	ENSP00000406565.2:n.2431+5368_2431+5370del
ENST00000382292.7:c.7799_7801del	ENSP00000371729.3:p.Asp2600del
ENST00000382298.7:c.7799_7801del	ENSP00000371735.3:p.Asp2600del
ENST00000402364.1:c.5549_5551del	ENSP00000385844.1:p.Asp1850del
ENST00000423156.1:c.1058-6593_1058-6591del	ENSP00000390925.1:n.1058-6593_1058-6591del
ENST00000455470.5:c.2129+5368_2129+5370del
NM_001278055.1:c.7358_7360del	NP_001264984.1:p.Asp2453del
NM_014363.5:c.7799_7801del	NP_055178.3:p.Asp2600del
XM_005266338.1:c.7826_7828del	XP_005266395.1:p.Asp2609del
XM_011535038.1:c.7850_7852del	XP_011533340.1:p.Asp2617del
XM_011535039.1:c.7817_7819del	XP_011533341.1:p.Asp2606del
XM_005266338.2:c.7826_7828del	XP_005266395.1:p.Asp2609del
XM_011535039.2:c.7817_7819del	XP_011533341.1:p.Asp2606del
XM_017020539.1:c.7790_7792del	XP_016876028.1:p.Asp2597del
XM_024449337.1:c.7826_7828del	XP_024305105.1:p.Asp2609del
NM_014363.6:c.7799_7801del MANE Select	NP_055178.3:p.Asp2600del
NM_001278055.2:c.7358_7360del	NP_001264984.1:p.Asp2453del