Canonical Allele Identifier: CA1716145324
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777064_70777065delinsAT , CM000669.2:g.70777064_70777065delinsAT GRCh38
NC_000007.13:g.70242050_70242051delinsAT , CM000669.1:g.70242050_70242051delinsAT GRCh37
NC_000007.12:g.69879986_69879987delinsAT NCBI36
NG_034133.1:g.1183146_1183147delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000342771.10:c.1933-39_1933-38delinsAT MANE Select ENSP00000344087.4:n.1933-39_1933-38delins...
ENST00000439256.2:c.31-39_31-38delinsAT ENSP00000407058.2:n.31-39_31-38delinsAT
ENST00000443672.2:c.268-39_268-38delinsAT ENSP00000393548.2:n.268-39_268-38delinsAT...
ENST00000449547.6:c.26-39_26-38delinsAT
ENST00000464768.2:n.601-39_601-38delinsAT
ENST00000644359.1:c.514-39_514-38delinsAT ENSP00000494561.1:n.514-39_514-38delinsAT...
ENST00000644506.1:c.559-39_559-38delinsAT ENSP00000496672.1:n.559-39_559-38delinsAT...
ENST00000644939.1:c.1930-39_1930-38delinsAT ENSP00000496726.1:n.1930-39_1930-38delins...
ENST00000644949.1:c.264-39_264-38delinsAT
ENST00000646136.1:n.244-39_244-38delinsAT
ENST00000647140.1:c.798-39_798-38delinsAT
ENST00000342771.8:c.1933-39_1933-38delinsAT ENSP00000344087.4:n.1933-39_1933-38delins...
ENST00000406775.6:c.1861-39_1861-38delinsAT ENSP00000385263.2:n.1861-39_1861-38delins...
ENST00000439256.1:c.31-39_31-38delinsAT
ENST00000443672.1:c.513-39_513-38delinsAT
ENST00000464768.1:n.599-39_599-38delinsAT
ENST00000465899.1:n.391_392delinsAT
ENST00000498384.5:n.301-39_301-38delinsAT
ENST00000611706.4:c.1189-39_1189-38delinsAT ENSP00000478134.1:n.1189-39_1189-38delins...
ENST00000615871.4:c.1117-39_1117-38delinsAT ENSP00000479325.1:n.1117-39_1117-38delins...
NM_001127231.2:c.1861-39_1861-38delinsAT NP_001120703.1:n.1861-39_1861-38delinsAT
NM_015570.3:c.1933-39_1933-38delinsAT NP_056385.1:n.1933-39_1933-38delinsAT
XM_005250257.1:c.580-39_580-38delinsAT XP_005250314.1:n.580-39_580-38delinsAT
XM_011516010.1:c.1954-39_1954-38delinsAT XP_011514312.1:n.1954-39_1954-38delinsAT
XM_011516011.1:c.1951-39_1951-38delinsAT XP_011514313.1:n.1951-39_1951-38delinsAT
XM_011516012.1:c.1888-39_1888-38delinsAT XP_011514314.1:n.1888-39_1888-38delinsAT
XM_011516013.1:c.1882-39_1882-38delinsAT XP_011514315.1:n.1882-39_1882-38delinsAT
XM_011516014.1:c.1852-39_1852-38delinsAT XP_011514316.1:n.1852-39_1852-38delinsAT
XM_011516015.1:c.1690-39_1690-38delinsAT XP_011514317.1:n.1690-39_1690-38delinsAT
XM_011516016.1:c.1663-39_1663-38delinsAT XP_011514318.1:n.1663-39_1663-38delinsAT
XM_011516017.1:c.1480-39_1480-38delinsAT XP_011514319.1:n.1480-39_1480-38delinsAT
XM_011516018.1:c.1453-39_1453-38delinsAT XP_011514320.1:n.1453-39_1453-38delinsAT
XM_005250257.2:c.580-39_580-38delinsAT XP_005250314.1:n.580-39_580-38delinsAT
XM_011516010.2:c.1954-39_1954-38delinsAT XP_011514312.1:n.1954-39_1954-38delinsAT
XM_011516011.2:c.1951-39_1951-38delinsAT XP_011514313.1:n.1951-39_1951-38delinsAT
XM_011516012.2:c.1888-39_1888-38delinsAT XP_011514314.1:n.1888-39_1888-38delinsAT
XM_011516013.2:c.1882-39_1882-38delinsAT XP_011514315.1:n.1882-39_1882-38delinsAT
XM_011516014.2:c.1852-39_1852-38delinsAT XP_011514316.1:n.1852-39_1852-38delinsAT
XM_011516017.2:c.1480-39_1480-38delinsAT XP_011514319.1:n.1480-39_1480-38delinsAT
XM_011516018.2:c.1453-39_1453-38delinsAT XP_011514320.1:n.1453-39_1453-38delinsAT
XM_017011951.2:c.1954-39_1954-38delinsAT XP_016867440.1:n.1954-39_1954-38delinsAT
NM_001127231.3:c.1861-39_1861-38delinsAT NP_001120703.1:n.1861-39_1861-38delinsAT
NM_015570.4:c.1933-39_1933-38delinsAT MANE Select NP_056385.1:n.1933-39_1933-38delinsAT