Canonical Allele Identifier: CA2078622536

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335063_23335064delinsTC , CM000675.2:g.23335063_23335064delinsTC	GRCh38
NC_000013.10:g.23909202_23909203delinsTC , CM000675.1:g.23909202_23909203delinsTC	GRCh37
NC_000013.9:g.22807202_22807203delinsTC	NCBI36
NG_012342.1:g.103639_103640delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18721_2185+18722delinsGA	ENSP00000508399.1:n.2185+18721_2185+18722delinsGA
ENST00000682944.1:c.8839_8840delinsGA	ENSP00000507173.1:p.Asp2947=
ENST00000683210.1:c.2185+18721_2185+18722delinsGA	ENSP00000506739.1:n.2185+18721_2185+18722delinsGA
ENST00000683270.1:c.6445+2358_6445+2359delinsGA	ENSP00000507624.1:n.6445+2358_6445+2359delinsGA
ENST00000683367.1:c.2177-5580_2177-5579delinsGA	ENSP00000507780.1:n.2177-5580_2177-5579delinsGA
ENST00000683489.1:c.2292-5112_2292-5111delinsGA	ENSP00000508403.1:n.2292-5112_2292-5111delinsGA
ENST00000683680.1:c.2319-5112_2319-5111delinsGA	ENSP00000507223.1:n.2319-5112_2319-5111delinsGA
ENST00000684163.1:c.2204-5580_2204-5579delinsGA	ENSP00000508262.1:n.2204-5580_2204-5579delinsGA
ENST00000684196.1:n.4543-5580_4543-5579delinsGA
ENST00000684325.1:c.2186-13390_2186-13389delinsGA	ENSP00000508121.1:n.2186-13390_2186-13389delinsGA
ENST00000684385.1:c.2221-5580_2221-5579delinsGA	ENSP00000507855.1:n.2221-5580_2221-5579delinsGA
ENST00000684497.1:c.2186-12420_2186-12419delinsGA	ENSP00000507057.1:n.2186-12420_2186-12419delinsGA
ENST00000382292.9:c.8812_8813delinsGA MANE Select	ENSP00000371729.3:p.Asp2938=
ENST00000423156.2:c.2186-5580_2186-5579delinsGA	ENSP00000390925.2:n.2186-5580_2186-5579delinsGA
ENST00000455470.6:c.2432-5580_2432-5579delinsGA	ENSP00000406565.2:n.2432-5580_2432-5579delinsGA
ENST00000382292.7:c.8812_8813delinsGA	ENSP00000371729.3:p.Asp2938=
ENST00000382298.7:c.8812_8813delinsGA	ENSP00000371735.3:p.Asp2938=
ENST00000402364.1:c.6562_6563delinsGA	ENSP00000385844.1:p.Asp2188=
ENST00000423156.1:c.1058-5580_1058-5579delinsGA	ENSP00000390925.1:n.1058-5580_1058-5579delinsGA
ENST00000455470.5:c.2130-5580_2130-5579delinsGA
NM_001278055.1:c.8371_8372delinsGA	NP_001264984.1:p.Asp2791=
NM_014363.5:c.8812_8813delinsGA	NP_055178.3:p.Asp2938=
XM_005266338.1:c.8839_8840delinsGA	XP_005266395.1:p.Asp2947=
XM_011535038.1:c.8863_8864delinsGA	XP_011533340.1:p.Asp2955=
XM_011535039.1:c.8830_8831delinsGA	XP_011533341.1:p.Asp2944=
XM_005266338.2:c.8839_8840delinsGA	XP_005266395.1:p.Asp2947=
XM_011535039.2:c.8830_8831delinsGA	XP_011533341.1:p.Asp2944=
XM_017020539.1:c.8803_8804delinsGA	XP_016876028.1:p.Asp2935=
XM_024449337.1:c.8839_8840delinsGA	XP_024305105.1:p.Asp2947=
NM_014363.6:c.8812_8813delinsGA MANE Select	NP_055178.3:p.Asp2938=
NM_001278055.2:c.8371_8372delinsGA	NP_001264984.1:p.Asp2791=