Canonical Allele Identifier: CA2622328944

Gene: SACS

Linked Data

• gnomAD v4: 13-23334810-TTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334814_23334816del , CM000675.2:g.23334814_23334816del	GRCh38
NC_000013.10:g.23908953_23908955del , CM000675.1:g.23908953_23908955del	GRCh37
NC_000013.9:g.22806953_22806955del	NCBI36
NG_012342.1:g.103890_103892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18972_2185+18974del	ENSP00000508399.1:n.2185+18972_2185+18974del
ENST00000682944.1:c.9090_9092del	ENSP00000507173.1:p.Asn3030del
ENST00000683210.1:c.2185+18972_2185+18974del	ENSP00000506739.1:n.2185+18972_2185+18974del
ENST00000683270.1:c.6445+2609_6445+2611del	ENSP00000507624.1:n.6445+2609_6445+2611del
ENST00000683367.1:c.2177-5329_2177-5327del	ENSP00000507780.1:n.2177-5329_2177-5327del
ENST00000683489.1:c.2292-4861_2292-4859del	ENSP00000508403.1:n.2292-4861_2292-4859del
ENST00000683680.1:c.2319-4861_2319-4859del	ENSP00000507223.1:n.2319-4861_2319-4859del
ENST00000684163.1:c.2204-5329_2204-5327del	ENSP00000508262.1:n.2204-5329_2204-5327del
ENST00000684196.1:n.4543-5329_4543-5327del
ENST00000684325.1:c.2186-13139_2186-13137del	ENSP00000508121.1:n.2186-13139_2186-13137del
ENST00000684385.1:c.2221-5329_2221-5327del	ENSP00000507855.1:n.2221-5329_2221-5327del
ENST00000684497.1:c.2186-12169_2186-12167del	ENSP00000507057.1:n.2186-12169_2186-12167del
ENST00000382292.9:c.9063_9065del MANE Select	ENSP00000371729.3:p.Asn3021del
ENST00000423156.2:c.2186-5329_2186-5327del	ENSP00000390925.2:n.2186-5329_2186-5327del
ENST00000455470.6:c.2432-5329_2432-5327del	ENSP00000406565.2:n.2432-5329_2432-5327del
ENST00000382292.7:c.9063_9065del	ENSP00000371729.3:p.Asn3021del
ENST00000382298.7:c.9063_9065del	ENSP00000371735.3:p.Asn3021del
ENST00000402364.1:c.6813_6815del	ENSP00000385844.1:p.Asn2271del
ENST00000423156.1:c.1058-5329_1058-5327del	ENSP00000390925.1:n.1058-5329_1058-5327del
ENST00000455470.5:c.2130-5329_2130-5327del
NM_001278055.1:c.8622_8624del	NP_001264984.1:p.Asn2874del
NM_014363.5:c.9063_9065del	NP_055178.3:p.Asn3021del
XM_005266338.1:c.9090_9092del	XP_005266395.1:p.Asn3030del
XM_011535038.1:c.9114_9116del	XP_011533340.1:p.Asn3038del
XM_011535039.1:c.9081_9083del	XP_011533341.1:p.Asn3027del
XM_005266338.2:c.9090_9092del	XP_005266395.1:p.Asn3030del
XM_011535039.2:c.9081_9083del	XP_011533341.1:p.Asn3027del
XM_017020539.1:c.9054_9056del	XP_016876028.1:p.Asn3018del
XM_024449337.1:c.9090_9092del	XP_024305105.1:p.Asn3030del
NM_014363.6:c.9063_9065del MANE Select	NP_055178.3:p.Asn3021del
NM_001278055.2:c.8622_8624del	NP_001264984.1:p.Asn2874del