Canonical Allele Identifier: CA2622329049

Gene: SACS

Linked Data

• gnomAD v4: 13-23338246-CGTAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338252_23338257del , CM000675.2:g.23338252_23338257del	GRCh38
NC_000013.10:g.23912391_23912396del , CM000675.1:g.23912391_23912396del	GRCh37
NC_000013.9:g.22810391_22810396del	NCBI36
NG_012342.1:g.100451_100456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15533_2185+15538del	ENSP00000508399.1:n.2185+15533_2185+15538del
ENST00000682944.1:c.5651_5656del	ENSP00000507173.1:p.Pro1884_Leu1885del
ENST00000683210.1:c.2185+15533_2185+15538del	ENSP00000506739.1:n.2185+15533_2185+15538del
ENST00000683270.1:c.5615_5620del	ENSP00000507624.1:p.Pro1872_Leu1873del
ENST00000683367.1:c.2177-8768_2177-8763del	ENSP00000507780.1:n.2177-8768_2177-8763del
ENST00000683489.1:c.2291+3333_2291+3338del	ENSP00000508403.1:n.2291+3333_2291+3338del
ENST00000683680.1:c.2318+3333_2318+3338del	ENSP00000507223.1:n.2318+3333_2318+3338del
ENST00000684163.1:c.2203+8559_2203+8564del	ENSP00000508262.1:n.2203+8559_2203+8564del
ENST00000684196.1:n.4543-8768_4543-8763del
ENST00000684325.1:c.2185+15533_2185+15538del	ENSP00000508121.1:n.2185+15533_2185+15538del
ENST00000684385.1:c.2220+8559_2220+8564del	ENSP00000507855.1:n.2220+8559_2220+8564del
ENST00000684497.1:c.2185+15533_2185+15538del	ENSP00000507057.1:n.2185+15533_2185+15538del
ENST00000382292.9:c.5624_5629del MANE Select	ENSP00000371729.3:p.Pro1875_Leu1876del
ENST00000423156.2:c.2186-8768_2186-8763del	ENSP00000390925.2:n.2186-8768_2186-8763del
ENST00000455470.6:c.2431+3193_2431+3198del	ENSP00000406565.2:n.2431+3193_2431+3198del
ENST00000382292.7:c.5624_5629del	ENSP00000371729.3:p.Pro1875_Leu1876del
ENST00000382298.7:c.5624_5629del	ENSP00000371735.3:p.Pro1875_Leu1876del
ENST00000402364.1:c.3374_3379del	ENSP00000385844.1:p.Pro1125_Leu1126del
ENST00000423156.1:c.1058-8768_1058-8763del	ENSP00000390925.1:n.1058-8768_1058-8763del
ENST00000455470.5:c.2129+3193_2129+3198del
NM_001278055.1:c.5183_5188del	NP_001264984.1:p.Pro1728_Leu1729del
NM_014363.5:c.5624_5629del	NP_055178.3:p.Pro1875_Leu1876del
XM_005266338.1:c.5651_5656del	XP_005266395.1:p.Pro1884_Leu1885del
XM_011535038.1:c.5675_5680del	XP_011533340.1:p.Pro1892_Leu1893del
XM_011535039.1:c.5642_5647del	XP_011533341.1:p.Pro1881_Leu1882del
XM_005266338.2:c.5651_5656del	XP_005266395.1:p.Pro1884_Leu1885del
XM_011535039.2:c.5642_5647del	XP_011533341.1:p.Pro1881_Leu1882del
XM_017020539.1:c.5615_5620del	XP_016876028.1:p.Pro1872_Leu1873del
XM_024449337.1:c.5651_5656del	XP_024305105.1:p.Pro1884_Leu1885del
NM_014363.6:c.5624_5629del MANE Select	NP_055178.3:p.Pro1875_Leu1876del
NM_001278055.2:c.5183_5188del	NP_001264984.1:p.Pro1728_Leu1729del