Canonical Allele Identifier: CA2622329023

Gene: SACS

Linked Data

• gnomAD v4: 13-23337426-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337427_23337428del , CM000675.2:g.23337427_23337428del	GRCh38
NC_000013.10:g.23911566_23911567del , CM000675.1:g.23911566_23911567del	GRCh37
NC_000013.9:g.22809566_22809567del	NCBI36
NG_012342.1:g.101275_101276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16357_2185+16358del	ENSP00000508399.1:n.2185+16357_2185+16358del
ENST00000682944.1:c.6475_6476del	ENSP00000507173.1:p.Gln2159ValfsTer7
ENST00000683210.1:c.2185+16357_2185+16358del	ENSP00000506739.1:n.2185+16357_2185+16358del
ENST00000683270.1:c.6439_6440del	ENSP00000507624.1:p.Gln2147ValfsTer6
ENST00000683367.1:c.2177-7944_2177-7943del	ENSP00000507780.1:n.2177-7944_2177-7943del
ENST00000683489.1:c.2291+4157_2291+4158del	ENSP00000508403.1:n.2291+4157_2291+4158del
ENST00000683680.1:c.2318+4157_2318+4158del	ENSP00000507223.1:n.2318+4157_2318+4158del
ENST00000684163.1:c.2204-7944_2204-7943del	ENSP00000508262.1:n.2204-7944_2204-7943del
ENST00000684196.1:n.4543-7944_4543-7943del
ENST00000684325.1:c.2186-15754_2186-15753del	ENSP00000508121.1:n.2186-15754_2186-15753del
ENST00000684385.1:c.2221-7944_2221-7943del	ENSP00000507855.1:n.2221-7944_2221-7943del
ENST00000684497.1:c.2186-14784_2186-14783del	ENSP00000507057.1:n.2186-14784_2186-14783del
ENST00000382292.9:c.6448_6449del MANE Select	ENSP00000371729.3:p.Gln2150ValfsTer7
ENST00000423156.2:c.2186-7944_2186-7943del	ENSP00000390925.2:n.2186-7944_2186-7943del
ENST00000455470.6:c.2431+4017_2431+4018del	ENSP00000406565.2:n.2431+4017_2431+4018del
ENST00000382292.7:c.6448_6449del	ENSP00000371729.3:p.Gln2150ValfsTer7
ENST00000382298.7:c.6448_6449del	ENSP00000371735.3:p.Gln2150ValfsTer7
ENST00000402364.1:c.4198_4199del	ENSP00000385844.1:p.Gln1400ValfsTer7
ENST00000423156.1:c.1058-7944_1058-7943del	ENSP00000390925.1:n.1058-7944_1058-7943del
ENST00000455470.5:c.2129+4017_2129+4018del
NM_001278055.1:c.6007_6008del	NP_001264984.1:p.Gln2003ValfsTer7
NM_014363.5:c.6448_6449del	NP_055178.3:p.Gln2150ValfsTer7
XM_005266338.1:c.6475_6476del	XP_005266395.1:p.Gln2159ValfsTer7
XM_011535038.1:c.6499_6500del	XP_011533340.1:p.Gln2167ValfsTer7
XM_011535039.1:c.6466_6467del	XP_011533341.1:p.Gln2156ValfsTer7
XM_005266338.2:c.6475_6476del	XP_005266395.1:p.Gln2159ValfsTer7
XM_011535039.2:c.6466_6467del	XP_011533341.1:p.Gln2156ValfsTer7
XM_017020539.1:c.6439_6440del	XP_016876028.1:p.Gln2147ValfsTer7
XM_024449337.1:c.6475_6476del	XP_024305105.1:p.Gln2159ValfsTer7
NM_014363.6:c.6448_6449del MANE Select	NP_055178.3:p.Gln2150ValfsTer7
NM_001278055.2:c.6007_6008del	NP_001264984.1:p.Gln2003ValfsTer7