Canonical Allele Identifier: CA2622329046

Gene: SACS

Linked Data

• gnomAD v4: 13-23337937-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337941_23337943del , CM000675.2:g.23337941_23337943del	GRCh38
NC_000013.10:g.23912080_23912082del , CM000675.1:g.23912080_23912082del	GRCh37
NC_000013.9:g.22810080_22810082del	NCBI36
NG_012342.1:g.100763_100765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15845_2185+15847del	ENSP00000508399.1:n.2185+15845_2185+15847del
ENST00000682944.1:c.5963_5965del	ENSP00000507173.1:p.Phe1988del
ENST00000683210.1:c.2185+15845_2185+15847del	ENSP00000506739.1:n.2185+15845_2185+15847del
ENST00000683270.1:c.5927_5929del	ENSP00000507624.1:p.Phe1976del
ENST00000683367.1:c.2177-8456_2177-8454del	ENSP00000507780.1:n.2177-8456_2177-8454del
ENST00000683489.1:c.2291+3645_2291+3647del	ENSP00000508403.1:n.2291+3645_2291+3647del
ENST00000683680.1:c.2318+3645_2318+3647del	ENSP00000507223.1:n.2318+3645_2318+3647del
ENST00000684163.1:c.2204-8456_2204-8454del	ENSP00000508262.1:n.2204-8456_2204-8454del
ENST00000684196.1:n.4543-8456_4543-8454del
ENST00000684325.1:c.2185+15845_2185+15847del	ENSP00000508121.1:n.2185+15845_2185+15847del
ENST00000684385.1:c.2221-8456_2221-8454del	ENSP00000507855.1:n.2221-8456_2221-8454del
ENST00000684497.1:c.2186-15296_2186-15294del	ENSP00000507057.1:n.2186-15296_2186-15294del
ENST00000382292.9:c.5936_5938del MANE Select	ENSP00000371729.3:p.Phe1979del
ENST00000423156.2:c.2186-8456_2186-8454del	ENSP00000390925.2:n.2186-8456_2186-8454del
ENST00000455470.6:c.2431+3505_2431+3507del	ENSP00000406565.2:n.2431+3505_2431+3507del
ENST00000382292.7:c.5936_5938del	ENSP00000371729.3:p.Phe1979del
ENST00000382298.7:c.5936_5938del	ENSP00000371735.3:p.Phe1979del
ENST00000402364.1:c.3686_3688del	ENSP00000385844.1:p.Phe1229del
ENST00000423156.1:c.1058-8456_1058-8454del	ENSP00000390925.1:n.1058-8456_1058-8454del
ENST00000455470.5:c.2129+3505_2129+3507del
NM_001278055.1:c.5495_5497del	NP_001264984.1:p.Phe1832del
NM_014363.5:c.5936_5938del	NP_055178.3:p.Phe1979del
XM_005266338.1:c.5963_5965del	XP_005266395.1:p.Phe1988del
XM_011535038.1:c.5987_5989del	XP_011533340.1:p.Phe1996del
XM_011535039.1:c.5954_5956del	XP_011533341.1:p.Phe1985del
XM_005266338.2:c.5963_5965del	XP_005266395.1:p.Phe1988del
XM_011535039.2:c.5954_5956del	XP_011533341.1:p.Phe1985del
XM_017020539.1:c.5927_5929del	XP_016876028.1:p.Phe1976del
XM_024449337.1:c.5963_5965del	XP_024305105.1:p.Phe1988del
NM_014363.6:c.5936_5938del MANE Select	NP_055178.3:p.Phe1979del
NM_001278055.2:c.5495_5497del	NP_001264984.1:p.Phe1832del