Canonical Allele Identifier: CA6910949

Gene: SACS

Linked Data

• ClinVar Variation Id: 458274
• ClinVar RCV Id: RCV000531534 ; RCV001835847
• dbSNP Id: rs773182375
• ExAC: 13:23910808 CAA / C
• gnomAD v2: 13-23910808-CAA-C
• gnomAD v3: 13-23336669-CAA-C
• gnomAD v4: 13-23336669-CAA-C
• MyVariant Identifiers: chr13:g.23910809_23910810del (hg19) ; chr13:g.23336670_23336671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336670_23336671del , CM000675.2:g.23336670_23336671del	GRCh38
NC_000013.10:g.23910809_23910810del , CM000675.1:g.23910809_23910810del	GRCh37
NC_000013.9:g.22808809_22808810del	NCBI36
NG_012342.1:g.102032_102033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17114_2185+17115del	ENSP00000508399.1:n.2185+17114_2185+17115del
ENST00000682944.1:c.7232_7233del	ENSP00000507173.1:p.Leu2411ArgfsTer6
ENST00000683210.1:c.2185+17114_2185+17115del	ENSP00000506739.1:n.2185+17114_2185+17115del
ENST00000683270.1:c.6445+751_6445+752del	ENSP00000507624.1:n.6445+751_6445+752del
ENST00000683367.1:c.2177-7187_2177-7186del	ENSP00000507780.1:n.2177-7187_2177-7186del
ENST00000683489.1:c.2291+4914_2291+4915del	ENSP00000508403.1:n.2291+4914_2291+4915del
ENST00000683680.1:c.2318+4914_2318+4915del	ENSP00000507223.1:n.2318+4914_2318+4915del
ENST00000684163.1:c.2204-7187_2204-7186del	ENSP00000508262.1:n.2204-7187_2204-7186del
ENST00000684196.1:n.4543-7187_4543-7186del
ENST00000684325.1:c.2186-14997_2186-14996del	ENSP00000508121.1:n.2186-14997_2186-14996del
ENST00000684385.1:c.2221-7187_2221-7186del	ENSP00000507855.1:n.2221-7187_2221-7186del
ENST00000684497.1:c.2186-14027_2186-14026del	ENSP00000507057.1:n.2186-14027_2186-14026del
ENST00000382292.9:c.7205_7206del MANE Select	ENSP00000371729.3:p.Leu2402ArgfsTer6
ENST00000423156.2:c.2186-7187_2186-7186del	ENSP00000390925.2:n.2186-7187_2186-7186del
ENST00000455470.6:c.2431+4774_2431+4775del	ENSP00000406565.2:n.2431+4774_2431+4775del
ENST00000382292.7:c.7205_7206del	ENSP00000371729.3:p.Leu2402ArgfsTer6
ENST00000382298.7:c.7205_7206del	ENSP00000371735.3:p.Leu2402ArgfsTer6
ENST00000402364.1:c.4955_4956del	ENSP00000385844.1:p.Leu1652ArgfsTer6
ENST00000423156.1:c.1058-7187_1058-7186del	ENSP00000390925.1:n.1058-7187_1058-7186del
ENST00000455470.5:c.2129+4774_2129+4775del
NM_001278055.1:c.6764_6765del	NP_001264984.1:p.Leu2255ArgfsTer6
NM_014363.5:c.7205_7206del	NP_055178.3:p.Leu2402ArgfsTer6
XM_005266338.1:c.7232_7233del	XP_005266395.1:p.Leu2411ArgfsTer6
XM_011535038.1:c.7256_7257del	XP_011533340.1:p.Leu2419ArgfsTer6
XM_011535039.1:c.7223_7224del	XP_011533341.1:p.Leu2408ArgfsTer6
XM_005266338.2:c.7232_7233del	XP_005266395.1:p.Leu2411ArgfsTer6
XM_011535039.2:c.7223_7224del	XP_011533341.1:p.Leu2408ArgfsTer6
XM_017020539.1:c.7196_7197del	XP_016876028.1:p.Leu2399ArgfsTer6
XM_024449337.1:c.7232_7233del	XP_024305105.1:p.Leu2411ArgfsTer6
NM_014363.6:c.7205_7206del MANE Select	NP_055178.3:p.Leu2402ArgfsTer6
NM_001278055.2:c.6764_6765del	NP_001264984.1:p.Leu2255ArgfsTer6