Canonical Allele Identifier: CA160023583
Community Standard Title: NM_015570.4(AUTS2):c.691-199_691-198insA
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70698370_70698371insA , CM000669.2:g.70698370_70698371insA GRCh38
NC_000007.13:g.70163356_70163357insA , CM000669.1:g.70163356_70163357insA GRCh37
NC_000007.12:g.69801292_69801293insA NCBI36
NG_034133.1:g.1104452_1104453insA

Transcript Alleles

HGVS Amino-acid Change
NM_015570.4:c.691-199_691-198insA MANE Select NP_056385.1:n.691-199_691-198insA
ENST00000342771.10:c.691-199_691-198insA MANE Select ENSP00000344087.4:n.691-199_691-198insA
NM_001127231.2:c.691-199_691-198insA NP_001120703.1:n.691-199_691-198insA
NM_001127231.3:c.691-199_691-198insA NP_001120703.1:n.691-199_691-198insA
NM_015570.3:c.691-199_691-198insA NP_056385.1:n.691-199_691-198insA
ENST00000342771.8:c.691-199_691-198insA ENSP00000344087.4:n.691-199_691-198insA
ENST00000406775.6:c.691-199_691-198insA ENSP00000385263.2:n.691-199_691-198insA
ENST00000443672.2:c.-249-199_-249-198insA ENSP00000393548.2:n.-249-199_-249-198insA
ENST00000489774.1:n.174-199_174-198insA
ENST00000644359.1:c.-681-199_-681-198insA ENSP00000494561.1:n.-681-199_-681-198insA
ENST00000644506.1:c.-681-199_-681-198insA ENSP00000496672.1:n.-681-199_-681-198insA
ENST00000644939.1:c.691-199_691-198insA ENSP00000496726.1:n.691-199_691-198insA
XM_011516010.1:c.691-199_691-198insA XP_011514312.1:n.691-199_691-198insA
XM_011516010.2:c.691-199_691-198insA XP_011514312.1:n.691-199_691-198insA
XM_011516011.1:c.691-199_691-198insA XP_011514313.1:n.691-199_691-198insA
XM_011516011.2:c.691-199_691-198insA XP_011514313.1:n.691-199_691-198insA
XM_011516012.1:c.691-199_691-198insA XP_011514314.1:n.691-199_691-198insA
XM_011516012.2:c.691-199_691-198insA XP_011514314.1:n.691-199_691-198insA
XM_011516013.1:c.691-199_691-198insA XP_011514315.1:n.691-199_691-198insA
XM_011516013.2:c.691-199_691-198insA XP_011514315.1:n.691-199_691-198insA
XM_011516014.1:c.691-199_691-198insA XP_011514316.1:n.691-199_691-198insA
XM_011516014.2:c.691-199_691-198insA XP_011514316.1:n.691-199_691-198insA
XM_011516015.1:c.691-199_691-198insA XP_011514317.1:n.691-199_691-198insA
XM_011516016.1:c.400-199_400-198insA XP_011514318.1:n.400-199_400-198insA
XM_011516017.1:c.217-199_217-198insA XP_011514319.1:n.217-199_217-198insA
XM_011516017.2:c.217-199_217-198insA XP_011514319.1:n.217-199_217-198insA
XM_011516018.1:c.190-199_190-198insA XP_011514320.1:n.190-199_190-198insA
XM_011516018.2:c.190-199_190-198insA XP_011514320.1:n.190-199_190-198insA
XM_017011951.2:c.691-199_691-198insA XP_016867440.1:n.691-199_691-198insA
XR_001744947.1:n.192_193insT