Canonical Allele Identifier: CA2580077348

Gene: AUTS2

Linked Data

• ClinVar Variation Id: 1708767
• ClinVar RCV Id: RCV002288051
• gnomAD v4: 7-70766247-CCACCAGCACACG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70766259_70766270del , CM000669.2:g.70766259_70766270del	GRCh38
NC_000007.13:g.70231245_70231256del , CM000669.1:g.70231245_70231256del	GRCh37
NC_000007.12:g.69869181_69869192del	NCBI36
NG_034133.1:g.1172341_1172352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1614_1625del MANE Select	ENSP00000344087.4:p.His539_Thr542del
ENST00000443672.2:c.-52_-41del	ENSP00000393548.2:n.-52_-41del
ENST00000644359.1:c.240_251del	ENSP00000494561.1:p.His81_Thr84del
ENST00000644506.1:c.240_251del	ENSP00000496672.1:p.His81_Thr84del
ENST00000644939.1:c.1611_1622del	ENSP00000496726.1:p.His538_Thr541del
ENST00000644949.1:c.26_37del
ENST00000647140.1:c.458_469del
ENST00000656200.1:c.240_251del	ENSP00000499508.1:p.His81_Thr84del
ENST00000342771.8:c.1614_1625del	ENSP00000344087.4:p.His539_Thr542del
ENST00000406775.6:c.1614_1625del	ENSP00000385263.2:p.His539_Thr542del
ENST00000443672.1:c.239_250del
ENST00000481994.1:n.221_232del
ENST00000611706.4:c.870_881del	ENSP00000478134.1:p.His291_Thr294del
ENST00000615871.4:c.870_881del	ENSP00000479325.1:p.His291_Thr294del
NM_001127231.2:c.1614_1625del	NP_001120703.1:p.His539_Thr542del
NM_015570.3:c.1614_1625del	NP_056385.1:p.His539_Thr542del
XM_005250257.1:c.240_251del	XP_005250314.1:p.His81_Thr84del
XM_011516010.1:c.1614_1625del	XP_011514312.1:p.His539_Thr542del
XM_011516011.1:c.1611_1622del	XP_011514313.1:p.His538_Thr541del
XM_011516012.1:c.1614_1625del	XP_011514314.1:p.His539_Thr542del
XM_011516013.1:c.1614_1625del	XP_011514315.1:p.His539_Thr542del
XM_011516014.1:c.1614_1625del	XP_011514316.1:p.His539_Thr542del
XM_011516015.1:c.1614_1625del	XP_011514317.1:p.His539_Thr542del
XM_011516016.1:c.1323_1334del	XP_011514318.1:p.His442_Thr445del
XM_011516017.1:c.1140_1151del	XP_011514319.1:p.His381_Thr384del
XM_011516018.1:c.1113_1124del	XP_011514320.1:p.His372_Thr375del
XM_005250257.2:c.240_251del	XP_005250314.1:p.His81_Thr84del
XM_011516010.2:c.1614_1625del	XP_011514312.1:p.His539_Thr542del
XM_011516011.2:c.1611_1622del	XP_011514313.1:p.His538_Thr541del
XM_011516012.2:c.1614_1625del	XP_011514314.1:p.His539_Thr542del
XM_011516013.2:c.1614_1625del	XP_011514315.1:p.His539_Thr542del
XM_011516014.2:c.1614_1625del	XP_011514316.1:p.His539_Thr542del
XM_011516017.2:c.1140_1151del	XP_011514319.1:p.His381_Thr384del
XM_011516018.2:c.1113_1124del	XP_011514320.1:p.His372_Thr375del
XM_017011951.2:c.1614_1625del	XP_016867440.1:p.His539_Thr542del
NM_001127231.3:c.1614_1625del	NP_001120703.1:p.His539_Thr542del
NM_015570.4:c.1614_1625del MANE Select	NP_056385.1:p.His539_Thr542del