Canonical Allele Identifier: CA1716166134

Gene: AUTS2

Linked Data

• dbSNP Id: rs1789934418
• gnomAD v4: 7-70766235-GCACCAGCACACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766247_70766258del , CM000669.2:g.70766247_70766258del	GRCh38
NC_000007.13:g.70231233_70231244del , CM000669.1:g.70231233_70231244del	GRCh37
NC_000007.12:g.69869169_69869180del	NCBI36
NG_034133.1:g.1172329_1172340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1602_1613del MANE Select	ENSP00000344087.4:p.His535_Thr538del
ENST00000443672.2:c.-64_-53del	ENSP00000393548.2:n.-64_-53del
ENST00000644359.1:c.228_239del	ENSP00000494561.1:p.His77_Thr80del
ENST00000644506.1:c.228_239del	ENSP00000496672.1:p.His77_Thr80del
ENST00000644939.1:c.1599_1610del	ENSP00000496726.1:p.His534_Thr537del
ENST00000644949.1:c.14_25del
ENST00000647140.1:c.446_457del
ENST00000656200.1:c.228_239del	ENSP00000499508.1:p.His77_Thr80del
ENST00000342771.8:c.1602_1613del	ENSP00000344087.4:p.His535_Thr538del
ENST00000406775.6:c.1602_1613del	ENSP00000385263.2:p.His535_Thr538del
ENST00000443672.1:c.227_238del
ENST00000481994.1:n.209_220del
ENST00000611706.4:c.858_869del	ENSP00000478134.1:p.His287_Thr290del
ENST00000615871.4:c.858_869del	ENSP00000479325.1:p.His287_Thr290del
NM_001127231.2:c.1602_1613del	NP_001120703.1:p.His535_Thr538del
NM_015570.3:c.1602_1613del	NP_056385.1:p.His535_Thr538del
XM_005250257.1:c.228_239del	XP_005250314.1:p.His77_Thr80del
XM_011516010.1:c.1602_1613del	XP_011514312.1:p.His535_Thr538del
XM_011516011.1:c.1599_1610del	XP_011514313.1:p.His534_Thr537del
XM_011516012.1:c.1602_1613del	XP_011514314.1:p.His535_Thr538del
XM_011516013.1:c.1602_1613del	XP_011514315.1:p.His535_Thr538del
XM_011516014.1:c.1602_1613del	XP_011514316.1:p.His535_Thr538del
XM_011516015.1:c.1602_1613del	XP_011514317.1:p.His535_Thr538del
XM_011516016.1:c.1311_1322del	XP_011514318.1:p.His438_Thr441del
XM_011516017.1:c.1128_1139del	XP_011514319.1:p.His377_Thr380del
XM_011516018.1:c.1101_1112del	XP_011514320.1:p.His368_Thr371del
XM_005250257.2:c.228_239del	XP_005250314.1:p.His77_Thr80del
XM_011516010.2:c.1602_1613del	XP_011514312.1:p.His535_Thr538del
XM_011516011.2:c.1599_1610del	XP_011514313.1:p.His534_Thr537del
XM_011516012.2:c.1602_1613del	XP_011514314.1:p.His535_Thr538del
XM_011516013.2:c.1602_1613del	XP_011514315.1:p.His535_Thr538del
XM_011516014.2:c.1602_1613del	XP_011514316.1:p.His535_Thr538del
XM_011516017.2:c.1128_1139del	XP_011514319.1:p.His377_Thr380del
XM_011516018.2:c.1101_1112del	XP_011514320.1:p.His368_Thr371del
XM_017011951.2:c.1602_1613del	XP_016867440.1:p.His535_Thr538del
NM_001127231.3:c.1602_1613del	NP_001120703.1:p.His535_Thr538del
NM_015570.4:c.1602_1613del MANE Select	NP_056385.1:p.His535_Thr538del