Canonical Allele Identifier: CA645562314

Gene: AUTS2

Linked Data

• COSMIC: COSM5872998

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766256dup , CM000669.2:g.70766256dup	GRCh38
NC_000007.13:g.70231242dup , CM000669.1:g.70231242dup	GRCh37
NC_000007.12:g.69869178dup	NCBI36
NG_034133.1:g.1172338dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1611dup MANE Select	ENSP00000344087.4:p.Thr538HisfsTer28
ENST00000443672.2:c.-55dup	ENSP00000393548.2:n.-55dup
ENST00000644359.1:c.237dup	ENSP00000494561.1:p.Thr80HisfsTer?
ENST00000644506.1:c.237dup	ENSP00000496672.1:p.Thr80HisfsTer28
ENST00000644939.1:c.1608dup	ENSP00000496726.1:p.Thr537HisfsTer28
ENST00000644949.1:c.23dup
ENST00000647140.1:c.455dup
ENST00000656200.1:c.237dup	ENSP00000499508.1:p.Thr80HisfsTer28
ENST00000342771.8:c.1611dup	ENSP00000344087.4:p.Thr538HisfsTer28
ENST00000406775.6:c.1611dup	ENSP00000385263.2:p.Thr538HisfsTer28
ENST00000443672.1:c.236dup
ENST00000481994.1:n.218dup
ENST00000611706.4:c.867dup	ENSP00000478134.1:p.Thr290HisfsTer28
ENST00000615871.4:c.867dup	ENSP00000479325.1:p.Thr290HisfsTer28
NM_001127231.2:c.1611dup	NP_001120703.1:p.Thr538HisfsTer28
NM_015570.3:c.1611dup	NP_056385.1:p.Thr538HisfsTer28
XM_005250257.1:c.237dup	XP_005250314.1:p.Thr80HisfsTer?
XM_011516010.1:c.1611dup	XP_011514312.1:p.Thr538HisfsTer?
XM_011516011.1:c.1608dup	XP_011514313.1:p.Thr537HisfsTer?
XM_011516012.1:c.1611dup	XP_011514314.1:p.Thr538HisfsTer?
XM_011516013.1:c.1611dup	XP_011514315.1:p.Thr538HisfsTer?
XM_011516014.1:c.1611dup	XP_011514316.1:p.Thr538HisfsTer?
XM_011516015.1:c.1611dup	XP_011514317.1:p.Thr538HisfsTer?
XM_011516016.1:c.1320dup	XP_011514318.1:p.Thr441HisfsTer?
XM_011516017.1:c.1137dup	XP_011514319.1:p.Thr380HisfsTer?
XM_011516018.1:c.1110dup	XP_011514320.1:p.Thr371HisfsTer?
XM_005250257.2:c.237dup	XP_005250314.1:p.Thr80HisfsTer?
XM_011516010.2:c.1611dup	XP_011514312.1:p.Thr538HisfsTer?
XM_011516011.2:c.1608dup	XP_011514313.1:p.Thr537HisfsTer?
XM_011516012.2:c.1611dup	XP_011514314.1:p.Thr538HisfsTer?
XM_011516013.2:c.1611dup	XP_011514315.1:p.Thr538HisfsTer?
XM_011516014.2:c.1611dup	XP_011514316.1:p.Thr538HisfsTer?
XM_011516017.2:c.1137dup	XP_011514319.1:p.Thr380HisfsTer?
XM_011516018.2:c.1110dup	XP_011514320.1:p.Thr371HisfsTer?
XM_017011951.2:c.1611dup	XP_016867440.1:p.Thr538HisfsTer?
NM_001127231.3:c.1611dup	NP_001120703.1:p.Thr538HisfsTer28
NM_015570.4:c.1611dup MANE Select	NP_056385.1:p.Thr538HisfsTer28