Canonical Allele Identifier: CA2078634246

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334247_23334251delinsTCAAA , CM000675.2:g.23334247_23334251delinsTCAAA	GRCh38
NC_000013.10:g.23908386_23908390delinsTCAAA , CM000675.1:g.23908386_23908390delinsTCAAA	GRCh37
NC_000013.9:g.22806386_22806390delinsTCAAA	NCBI36
NG_012342.1:g.104452_104456delinsTTTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19534_2185+19538delinsTTTGA	ENSP00000508399.1:n.2185+19534_2185+19538...
ENST00000682944.1:c.9652_9656delinsTTTGA	ENSP00000507173.1:p.Phe3218=
ENST00000683210.1:c.2185+19534_2185+19538delinsTTTGA	ENSP00000506739.1:n.2185+19534_2185+19538...
ENST00000683270.1:c.6445+3171_6445+3175delinsTTTGA	ENSP00000507624.1:n.6445+3171_6445+3175de...
ENST00000683367.1:c.2177-4767_2177-4763delinsTTTGA	ENSP00000507780.1:n.2177-4767_2177-4763de...
ENST00000683489.1:c.2292-4299_2292-4295delinsTTTGA	ENSP00000508403.1:n.2292-4299_2292-4295de...
ENST00000683680.1:c.2319-4299_2319-4295delinsTTTGA	ENSP00000507223.1:n.2319-4299_2319-4295de...
ENST00000684163.1:c.2204-4767_2204-4763delinsTTTGA	ENSP00000508262.1:n.2204-4767_2204-4763de...
ENST00000684196.1:n.4543-4767_4543-4763delinsTTTGA
ENST00000684325.1:c.2186-12577_2186-12573delinsTTTGA	ENSP00000508121.1:n.2186-12577_2186-12573...
ENST00000684385.1:c.2221-4767_2221-4763delinsTTTGA	ENSP00000507855.1:n.2221-4767_2221-4763de...
ENST00000684497.1:c.2186-11607_2186-11603delinsTTTGA	ENSP00000507057.1:n.2186-11607_2186-11603...
ENST00000382292.9:c.9625_9629delinsTTTGA MANE Select	ENSP00000371729.3:p.Phe3209=
ENST00000423156.2:c.2186-4767_2186-4763delinsTTTGA	ENSP00000390925.2:n.2186-4767_2186-4763de...
ENST00000455470.6:c.2432-4767_2432-4763delinsTTTGA	ENSP00000406565.2:n.2432-4767_2432-4763de...
ENST00000382292.7:c.9625_9629delinsTTTGA	ENSP00000371729.3:p.Phe3209=
ENST00000382298.7:c.9625_9629delinsTTTGA	ENSP00000371735.3:p.Phe3209=
ENST00000402364.1:c.7375_7379delinsTTTGA	ENSP00000385844.1:p.Phe2459=
ENST00000423156.1:c.1058-4767_1058-4763delinsTTTGA	ENSP00000390925.1:n.1058-4767_1058-4763de...
ENST00000455470.5:c.2130-4767_2130-4763delinsTTTGA
NM_001278055.1:c.9184_9188delinsTTTGA	NP_001264984.1:p.Phe3062=
NM_014363.5:c.9625_9629delinsTTTGA	NP_055178.3:p.Phe3209=
XM_005266338.1:c.9652_9656delinsTTTGA	XP_005266395.1:p.Phe3218=
XM_011535038.1:c.9676_9680delinsTTTGA	XP_011533340.1:p.Phe3226=
XM_011535039.1:c.9643_9647delinsTTTGA	XP_011533341.1:p.Phe3215=
XM_005266338.2:c.9652_9656delinsTTTGA	XP_005266395.1:p.Phe3218=
XM_011535039.2:c.9643_9647delinsTTTGA	XP_011533341.1:p.Phe3215=
XM_017020539.1:c.9616_9620delinsTTTGA	XP_016876028.1:p.Phe3206=
XM_024449337.1:c.9652_9656delinsTTTGA	XP_024305105.1:p.Phe3218=
NM_014363.6:c.9625_9629delinsTTTGA MANE Select	NP_055178.3:p.Phe3209=
NM_001278055.2:c.9184_9188delinsTTTGA	NP_001264984.1:p.Phe3062=