Canonical Allele Identifier: CA2683160783

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70766247-C-CCACCAGCACACG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766259_70766270dup , CM000669.2:g.70766259_70766270dup	GRCh38
NC_000007.13:g.70231245_70231256dup , CM000669.1:g.70231245_70231256dup	GRCh37
NC_000007.12:g.69869181_69869192dup	NCBI36
NG_034133.1:g.1172341_1172352dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1614_1625dup MANE Select	ENSP00000344087.4:p.Thr542_Phe543insHisGlnHisThr
ENST00000443672.2:c.-52_-41dup	ENSP00000393548.2:n.-52_-41dup
ENST00000644359.1:c.240_251dup	ENSP00000494561.1:p.Thr84_Phe85insHisGlnHisThr
ENST00000644506.1:c.240_251dup	ENSP00000496672.1:p.Thr84_Phe85insHisGlnHisThr
ENST00000644939.1:c.1611_1622dup	ENSP00000496726.1:p.Thr541_Phe542insHisGlnHisThr
ENST00000644949.1:c.26_37dup
ENST00000647140.1:c.458_469dup
ENST00000656200.1:c.240_251dup	ENSP00000499508.1:p.Thr84_Phe85insHisGlnHisThr
ENST00000342771.8:c.1614_1625dup	ENSP00000344087.4:p.Thr542_Phe543insHisGlnHisThr
ENST00000406775.6:c.1614_1625dup	ENSP00000385263.2:p.Thr542_Phe543insHisGlnHisThr
ENST00000443672.1:c.239_250dup
ENST00000481994.1:n.221_232dup
ENST00000611706.4:c.870_881dup	ENSP00000478134.1:p.Thr294_Phe295insHisGlnHisThr
ENST00000615871.4:c.870_881dup	ENSP00000479325.1:p.Thr294_Phe295insHisGlnHisThr
NM_001127231.2:c.1614_1625dup	NP_001120703.1:p.Thr542_Phe543insHisGlnHisThr
NM_015570.3:c.1614_1625dup	NP_056385.1:p.Thr542_Phe543insHisGlnHisThr
XM_005250257.1:c.240_251dup	XP_005250314.1:p.Thr84_Phe85insHisGlnHisThr
XM_011516010.1:c.1614_1625dup	XP_011514312.1:p.Thr542_Phe543insHisGlnHisThr
XM_011516011.1:c.1611_1622dup	XP_011514313.1:p.Thr541_Phe542insHisGlnHisThr
XM_011516012.1:c.1614_1625dup	XP_011514314.1:p.Thr542_Phe543insHisGlnHisThr
XM_011516013.1:c.1614_1625dup	XP_011514315.1:p.Thr542_Phe543insHisGlnHisThr
XM_011516014.1:c.1614_1625dup	XP_011514316.1:p.Thr542_Phe543insHisGlnHisThr
XM_011516015.1:c.1614_1625dup	XP_011514317.1:p.Thr542_Phe543insHisGlnHisThr
XM_011516016.1:c.1323_1334dup	XP_011514318.1:p.Thr445_Phe446insHisGlnHisThr
XM_011516017.1:c.1140_1151dup	XP_011514319.1:p.Thr384_Phe385insHisGlnHisThr
XM_011516018.1:c.1113_1124dup	XP_011514320.1:p.Thr375_Phe376insHisGlnHisThr
XM_005250257.2:c.240_251dup	XP_005250314.1:p.Thr84_Phe85insHisGlnHisThr
XM_011516010.2:c.1614_1625dup	XP_011514312.1:p.Thr542_Phe543insHisGlnHisThr
XM_011516011.2:c.1611_1622dup	XP_011514313.1:p.Thr541_Phe542insHisGlnHisThr
XM_011516012.2:c.1614_1625dup	XP_011514314.1:p.Thr542_Phe543insHisGlnHisThr
XM_011516013.2:c.1614_1625dup	XP_011514315.1:p.Thr542_Phe543insHisGlnHisThr
XM_011516014.2:c.1614_1625dup	XP_011514316.1:p.Thr542_Phe543insHisGlnHisThr
XM_011516017.2:c.1140_1151dup	XP_011514319.1:p.Thr384_Phe385insHisGlnHisThr
XM_011516018.2:c.1113_1124dup	XP_011514320.1:p.Thr375_Phe376insHisGlnHisThr
XM_017011951.2:c.1614_1625dup	XP_016867440.1:p.Thr542_Phe543insHisGlnHisThr
NM_001127231.3:c.1614_1625dup	NP_001120703.1:p.Thr542_Phe543insHisGlnHisThr
NM_015570.4:c.1614_1625dup MANE Select	NP_056385.1:p.Thr542_Phe543insHisGlnHisThr