Canonical Allele Identifier: CA1716145329
Gene: AUTS2 HGNC NCBI

Linked Data

dbSNP Id: rs1790751100

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777065del , CM000669.2:g.70777065del GRCh38
NC_000007.13:g.70242051del , CM000669.1:g.70242051del GRCh37
NC_000007.12:g.69879987del NCBI36
NG_034133.1:g.1183147del

Transcript Alleles

HGVS Amino-acid change
ENST00000342771.10:c.1933-38del MANE Select ENSP00000344087.4:n.1933-38del
ENST00000439256.2:c.31-38del ENSP00000407058.2:n.31-38del
ENST00000443672.2:c.268-38del ENSP00000393548.2:n.268-38del
ENST00000449547.6:c.26-38del
ENST00000464768.2:n.601-38del
ENST00000644359.1:c.514-38del ENSP00000494561.1:n.514-38del
ENST00000644506.1:c.559-38del ENSP00000496672.1:n.559-38del
ENST00000644939.1:c.1930-38del ENSP00000496726.1:n.1930-38del
ENST00000644949.1:c.264-38del
ENST00000646136.1:n.244-38del
ENST00000647140.1:c.798-38del
ENST00000342771.8:c.1933-38del ENSP00000344087.4:n.1933-38del
ENST00000406775.6:c.1861-38del ENSP00000385263.2:n.1861-38del
ENST00000439256.1:c.31-38del
ENST00000443672.1:c.513-38del
ENST00000464768.1:n.599-38del
ENST00000465899.1:n.392del
ENST00000498384.5:n.301-38del
ENST00000611706.4:c.1189-38del ENSP00000478134.1:n.1189-38del
ENST00000615871.4:c.1117-38del ENSP00000479325.1:n.1117-38del
NM_001127231.2:c.1861-38del NP_001120703.1:n.1861-38del
NM_015570.3:c.1933-38del NP_056385.1:n.1933-38del
XM_005250257.1:c.580-38del XP_005250314.1:n.580-38del
XM_011516010.1:c.1954-38del XP_011514312.1:n.1954-38del
XM_011516011.1:c.1951-38del XP_011514313.1:n.1951-38del
XM_011516012.1:c.1888-38del XP_011514314.1:n.1888-38del
XM_011516013.1:c.1882-38del XP_011514315.1:n.1882-38del
XM_011516014.1:c.1852-38del XP_011514316.1:n.1852-38del
XM_011516015.1:c.1690-38del XP_011514317.1:n.1690-38del
XM_011516016.1:c.1663-38del XP_011514318.1:n.1663-38del
XM_011516017.1:c.1480-38del XP_011514319.1:n.1480-38del
XM_011516018.1:c.1453-38del XP_011514320.1:n.1453-38del
XM_005250257.2:c.580-38del XP_005250314.1:n.580-38del
XM_011516010.2:c.1954-38del XP_011514312.1:n.1954-38del
XM_011516011.2:c.1951-38del XP_011514313.1:n.1951-38del
XM_011516012.2:c.1888-38del XP_011514314.1:n.1888-38del
XM_011516013.2:c.1882-38del XP_011514315.1:n.1882-38del
XM_011516014.2:c.1852-38del XP_011514316.1:n.1852-38del
XM_011516017.2:c.1480-38del XP_011514319.1:n.1480-38del
XM_011516018.2:c.1453-38del XP_011514320.1:n.1453-38del
XM_017011951.2:c.1954-38del XP_016867440.1:n.1954-38del
NM_001127231.3:c.1861-38del NP_001120703.1:n.1861-38del
NM_015570.4:c.1933-38del MANE Select NP_056385.1:n.1933-38del