Canonical Allele Identifier: CA1716165941

Gene: AUTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766131_70766132delinsCA , CM000669.2:g.70766131_70766132delinsCA	GRCh38
NC_000007.13:g.70231117_70231118delinsCA , CM000669.1:g.70231117_70231118delinsCA	GRCh37
NC_000007.12:g.69869053_69869054delinsCA	NCBI36
NG_034133.1:g.1172213_1172214delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000342771.10:c.1486_1487delinsCA MANE Select	ENSP00000344087.4:p.Gln496=
ENST00000443672.2:c.-180_-179delinsCA	ENSP00000393548.2:n.-180_-179delinsCA
ENST00000644359.1:c.112_113delinsCA	ENSP00000494561.1:p.Gln38=
ENST00000644506.1:c.112_113delinsCA	ENSP00000496672.1:p.Gln38=
ENST00000644939.1:c.1483_1484delinsCA	ENSP00000496726.1:p.Gln495=
ENST00000647140.1:c.330_331delinsCA
ENST00000656200.1:c.112_113delinsCA	ENSP00000499508.1:p.Gln38=
ENST00000342771.8:c.1486_1487delinsCA	ENSP00000344087.4:p.Gln496=
ENST00000406775.6:c.1486_1487delinsCA	ENSP00000385263.2:p.Gln496=
ENST00000443672.1:c.111_112delinsCA
ENST00000481994.1:n.93_94delinsCA
ENST00000611706.4:c.742_743delinsCA	ENSP00000478134.1:p.Gln248=
ENST00000615871.4:c.742_743delinsCA	ENSP00000479325.1:p.Gln248=
NM_001127231.2:c.1486_1487delinsCA	NP_001120703.1:p.Gln496=
NM_015570.3:c.1486_1487delinsCA	NP_056385.1:p.Gln496=
XM_005250257.1:c.112_113delinsCA	XP_005250314.1:p.Gln38=
XM_011516010.1:c.1486_1487delinsCA	XP_011514312.1:p.Gln496=
XM_011516011.1:c.1483_1484delinsCA	XP_011514313.1:p.Gln495=
XM_011516012.1:c.1486_1487delinsCA	XP_011514314.1:p.Gln496=
XM_011516013.1:c.1486_1487delinsCA	XP_011514315.1:p.Gln496=
XM_011516014.1:c.1486_1487delinsCA	XP_011514316.1:p.Gln496=
XM_011516015.1:c.1486_1487delinsCA	XP_011514317.1:p.Gln496=
XM_011516016.1:c.1195_1196delinsCA	XP_011514318.1:p.Gln399=
XM_011516017.1:c.1012_1013delinsCA	XP_011514319.1:p.Gln338=
XM_011516018.1:c.985_986delinsCA	XP_011514320.1:p.Gln329=
XM_005250257.2:c.112_113delinsCA	XP_005250314.1:p.Gln38=
XM_011516010.2:c.1486_1487delinsCA	XP_011514312.1:p.Gln496=
XM_011516011.2:c.1483_1484delinsCA	XP_011514313.1:p.Gln495=
XM_011516012.2:c.1486_1487delinsCA	XP_011514314.1:p.Gln496=
XM_011516013.2:c.1486_1487delinsCA	XP_011514315.1:p.Gln496=
XM_011516014.2:c.1486_1487delinsCA	XP_011514316.1:p.Gln496=
XM_011516017.2:c.1012_1013delinsCA	XP_011514319.1:p.Gln338=
XM_011516018.2:c.985_986delinsCA	XP_011514320.1:p.Gln329=
XM_017011951.2:c.1486_1487delinsCA	XP_016867440.1:p.Gln496=
NM_001127231.3:c.1486_1487delinsCA	NP_001120703.1:p.Gln496=
NM_015570.4:c.1486_1487delinsCA MANE Select	NP_056385.1:p.Gln496=