Canonical Allele Identifier: CA1716166113

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766228_70766258delinsAGCACCAGCACCAGCACACCCACCAGCACAC , CM000669.2:g.70766228_70766258delinsAGCACCAGCACCAGCACACCCACCAGCACAC	GRCh38
NC_000007.13:g.70231214_70231244delinsAGCACCAGCACCAGCACACCCACCAGCACAC , CM000669.1:g.70231214_70231244delinsAGCACCAGCACCAGCACACCCACCAGCACAC	GRCh37
NC_000007.12:g.69869150_69869180delinsAGCACCAGCACCAGCACACCCACCAGCACAC	NCBI36
NG_034133.1:g.1172310_1172340delinsAGCACCAGCACCAGCACACCCACCAGCACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC MANE Select	ENSP00000344087.4:p.Gln528=
ENST00000443672.2:c.-83_-53delinsAGCACCAGCACCAGCACACCCACCAGCACAC	ENSP00000393548.2:n.-83_-53delinsAGCACCAGCACCAGCACACCCACCAGCA...
ENST00000644359.1:c.209_239delinsAGCACCAGCACCAGCACACCCACCAGCACAC	ENSP00000494561.1:p.Gln70=
ENST00000644506.1:c.209_239delinsAGCACCAGCACCAGCACACCCACCAGCACAC	ENSP00000496672.1:p.Gln70=
ENST00000644939.1:c.1580_1610delinsAGCACCAGCACCAGCACACCCACCAGCACAC	ENSP00000496726.1:p.Gln527=
ENST00000647140.1:c.427_457delinsAGCACCAGCACCAGCACACCCACCAGCACAC
ENST00000656200.1:c.209_239delinsAGCACCAGCACCAGCACACCCACCAGCACAC	ENSP00000499508.1:p.Gln70=
ENST00000342771.8:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	ENSP00000344087.4:p.Gln528=
ENST00000406775.6:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	ENSP00000385263.2:p.Gln528=
ENST00000443672.1:c.208_238delinsAGCACCAGCACCAGCACACCCACCAGCACAC
ENST00000481994.1:n.190_220delinsAGCACCAGCACCAGCACACCCACCAGCACAC
ENST00000611706.4:c.839_869delinsAGCACCAGCACCAGCACACCCACCAGCACAC	ENSP00000478134.1:p.Gln280=
ENST00000615871.4:c.839_869delinsAGCACCAGCACCAGCACACCCACCAGCACAC	ENSP00000479325.1:p.Gln280=
NM_001127231.2:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	NP_001120703.1:p.Gln528=
NM_015570.3:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	NP_056385.1:p.Gln528=
XM_005250257.1:c.209_239delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_005250314.1:p.Gln70=
XM_011516010.1:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514312.1:p.Gln528=
XM_011516011.1:c.1580_1610delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514313.1:p.Gln527=
XM_011516012.1:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514314.1:p.Gln528=
XM_011516013.1:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514315.1:p.Gln528=
XM_011516014.1:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514316.1:p.Gln528=
XM_011516015.1:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514317.1:p.Gln528=
XM_011516016.1:c.1292_1322delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514318.1:p.Gln431=
XM_011516017.1:c.1109_1139delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514319.1:p.Gln370=
XM_011516018.1:c.1082_1112delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514320.1:p.Gln361=
XM_005250257.2:c.209_239delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_005250314.1:p.Gln70=
XM_011516010.2:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514312.1:p.Gln528=
XM_011516011.2:c.1580_1610delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514313.1:p.Gln527=
XM_011516012.2:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514314.1:p.Gln528=
XM_011516013.2:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514315.1:p.Gln528=
XM_011516014.2:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514316.1:p.Gln528=
XM_011516017.2:c.1109_1139delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514319.1:p.Gln370=
XM_011516018.2:c.1082_1112delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_011514320.1:p.Gln361=
XM_017011951.2:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	XP_016867440.1:p.Gln528=
NM_001127231.3:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC	NP_001120703.1:p.Gln528=
NM_015570.4:c.1583_1613delinsAGCACCAGCACCAGCACACCCACCAGCACAC MANE Select	NP_056385.1:p.Gln528=