Canonical Allele Identifier: CA608985240

Gene: SACS

Linked Data

• dbSNP Id: rs1472173804
• gnomAD v2: 13-23908480-CATG-C
• gnomAD v4: 13-23334341-CATG-C
• MyVariant Identifiers: chr13:g.23908481_23908483del (hg19) ; chr13:g.23334342_23334344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334344_23334346del , CM000675.2:g.23334344_23334346del	GRCh38
NC_000013.10:g.23908483_23908485del , CM000675.1:g.23908483_23908485del	GRCh37
NC_000013.9:g.22806483_22806485del	NCBI36
NG_012342.1:g.104359_104361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19441_2185+19443del	ENSP00000508399.1:n.2185+19441_2185+19443del
ENST00000682944.1:c.9559_9561del	ENSP00000507173.1:p.His3187del
ENST00000683210.1:c.2185+19441_2185+19443del	ENSP00000506739.1:n.2185+19441_2185+19443del
ENST00000683270.1:c.6445+3078_6445+3080del	ENSP00000507624.1:n.6445+3078_6445+3080del
ENST00000683367.1:c.2177-4860_2177-4858del	ENSP00000507780.1:n.2177-4860_2177-4858del
ENST00000683489.1:c.2292-4392_2292-4390del	ENSP00000508403.1:n.2292-4392_2292-4390del
ENST00000683680.1:c.2319-4392_2319-4390del	ENSP00000507223.1:n.2319-4392_2319-4390del
ENST00000684163.1:c.2204-4860_2204-4858del	ENSP00000508262.1:n.2204-4860_2204-4858del
ENST00000684196.1:n.4543-4860_4543-4858del
ENST00000684325.1:c.2186-12670_2186-12668del	ENSP00000508121.1:n.2186-12670_2186-12668del
ENST00000684385.1:c.2221-4860_2221-4858del	ENSP00000507855.1:n.2221-4860_2221-4858del
ENST00000684497.1:c.2186-11700_2186-11698del	ENSP00000507057.1:n.2186-11700_2186-11698del
ENST00000382292.9:c.9532_9534del MANE Select	ENSP00000371729.3:p.His3178del
ENST00000423156.2:c.2186-4860_2186-4858del	ENSP00000390925.2:n.2186-4860_2186-4858del
ENST00000455470.6:c.2432-4860_2432-4858del	ENSP00000406565.2:n.2432-4860_2432-4858del
ENST00000382292.7:c.9532_9534del	ENSP00000371729.3:p.His3178del
ENST00000382298.7:c.9532_9534del	ENSP00000371735.3:p.His3178del
ENST00000402364.1:c.7282_7284del	ENSP00000385844.1:p.His2428del
ENST00000423156.1:c.1058-4860_1058-4858del	ENSP00000390925.1:n.1058-4860_1058-4858del
ENST00000455470.5:c.2130-4860_2130-4858del
NM_001278055.1:c.9091_9093del	NP_001264984.1:p.His3031del
NM_014363.5:c.9532_9534del	NP_055178.3:p.His3178del
XM_005266338.1:c.9559_9561del	XP_005266395.1:p.His3187del
XM_011535038.1:c.9583_9585del	XP_011533340.1:p.His3195del
XM_011535039.1:c.9550_9552del	XP_011533341.1:p.His3184del
XM_005266338.2:c.9559_9561del	XP_005266395.1:p.His3187del
XM_011535039.2:c.9550_9552del	XP_011533341.1:p.His3184del
XM_017020539.1:c.9523_9525del	XP_016876028.1:p.His3175del
XM_024449337.1:c.9559_9561del	XP_024305105.1:p.His3187del
NM_014363.6:c.9532_9534del MANE Select	NP_055178.3:p.His3178del
NM_001278055.2:c.9091_9093del	NP_001264984.1:p.His3031del