Canonical Allele Identifier: CA2622329037

Gene: SACS

Linked Data

• gnomAD v4: 13-23337615-CTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337619_23337621del , CM000675.2:g.23337619_23337621del	GRCh38
NC_000013.10:g.23911758_23911760del , CM000675.1:g.23911758_23911760del	GRCh37
NC_000013.9:g.22809758_22809760del	NCBI36
NG_012342.1:g.101085_101087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16167_2185+16169del	ENSP00000508399.1:n.2185+16167_2185+16169del
ENST00000682944.1:c.6285_6287del	ENSP00000507173.1:p.Asp2095del
ENST00000683210.1:c.2185+16167_2185+16169del	ENSP00000506739.1:n.2185+16167_2185+16169del
ENST00000683270.1:c.6249_6251del	ENSP00000507624.1:p.Asp2083del
ENST00000683367.1:c.2177-8134_2177-8132del	ENSP00000507780.1:n.2177-8134_2177-8132del
ENST00000683489.1:c.2291+3967_2291+3969del	ENSP00000508403.1:n.2291+3967_2291+3969del
ENST00000683680.1:c.2318+3967_2318+3969del	ENSP00000507223.1:n.2318+3967_2318+3969del
ENST00000684163.1:c.2204-8134_2204-8132del	ENSP00000508262.1:n.2204-8134_2204-8132del
ENST00000684196.1:n.4543-8134_4543-8132del
ENST00000684325.1:c.2186-15944_2186-15942del	ENSP00000508121.1:n.2186-15944_2186-15942del
ENST00000684385.1:c.2221-8134_2221-8132del	ENSP00000507855.1:n.2221-8134_2221-8132del
ENST00000684497.1:c.2186-14974_2186-14972del	ENSP00000507057.1:n.2186-14974_2186-14972del
ENST00000382292.9:c.6258_6260del MANE Select	ENSP00000371729.3:p.Asp2086del
ENST00000423156.2:c.2186-8134_2186-8132del	ENSP00000390925.2:n.2186-8134_2186-8132del
ENST00000455470.6:c.2431+3827_2431+3829del	ENSP00000406565.2:n.2431+3827_2431+3829del
ENST00000382292.7:c.6258_6260del	ENSP00000371729.3:p.Asp2086del
ENST00000382298.7:c.6258_6260del	ENSP00000371735.3:p.Asp2086del
ENST00000402364.1:c.4008_4010del	ENSP00000385844.1:p.Asp1336del
ENST00000423156.1:c.1058-8134_1058-8132del	ENSP00000390925.1:n.1058-8134_1058-8132del
ENST00000455470.5:c.2129+3827_2129+3829del
NM_001278055.1:c.5817_5819del	NP_001264984.1:p.Asp1939del
NM_014363.5:c.6258_6260del	NP_055178.3:p.Asp2086del
XM_005266338.1:c.6285_6287del	XP_005266395.1:p.Asp2095del
XM_011535038.1:c.6309_6311del	XP_011533340.1:p.Asp2103del
XM_011535039.1:c.6276_6278del	XP_011533341.1:p.Asp2092del
XM_005266338.2:c.6285_6287del	XP_005266395.1:p.Asp2095del
XM_011535039.2:c.6276_6278del	XP_011533341.1:p.Asp2092del
XM_017020539.1:c.6249_6251del	XP_016876028.1:p.Asp2083del
XM_024449337.1:c.6285_6287del	XP_024305105.1:p.Asp2095del
NM_014363.6:c.6258_6260del MANE Select	NP_055178.3:p.Asp2086del
NM_001278055.2:c.5817_5819del	NP_001264984.1:p.Asp1939del