Canonical Allele Identifier: CA2683162087

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70776910-GGGGAGCTGGCTGTGACTCCCTTATGACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70776914_70776941del , CM000669.2:g.70776914_70776941del	GRCh38
NC_000007.13:g.70241900_70241927del , CM000669.1:g.70241900_70241927del	GRCh37
NC_000007.12:g.69879836_69879863del	NCBI36
NG_034133.1:g.1182996_1183023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.1933-189_1933-162del MANE Select	ENSP00000344087.4:n.1933-189_1933-162del
ENST00000439256.2:c.31-189_31-162del	ENSP00000407058.2:n.31-189_31-162del
ENST00000443672.2:c.268-189_268-162del	ENSP00000393548.2:n.268-189_268-162del
ENST00000449547.6:c.26-189_26-162del
ENST00000464768.2:n.601-189_601-162del
ENST00000644359.1:c.514-189_514-162del	ENSP00000494561.1:n.514-189_514-162del
ENST00000644506.1:c.559-189_559-162del	ENSP00000496672.1:n.559-189_559-162del
ENST00000644939.1:c.1930-189_1930-162del	ENSP00000496726.1:n.1930-189_1930-162del
ENST00000644949.1:c.264-189_264-162del
ENST00000646136.1:n.244-189_244-162del
ENST00000647140.1:c.798-189_798-162del
ENST00000342771.8:c.1933-189_1933-162del	ENSP00000344087.4:n.1933-189_1933-162del
ENST00000406775.6:c.1861-189_1861-162del	ENSP00000385263.2:n.1861-189_1861-162del
ENST00000439256.1:c.31-189_31-162del
ENST00000443672.1:c.513-189_513-162del
ENST00000464768.1:n.599-189_599-162del
ENST00000465899.1:n.241_268del
ENST00000498384.5:n.301-189_301-162del
ENST00000611706.4:c.1189-189_1189-162del	ENSP00000478134.1:n.1189-189_1189-162del
ENST00000615871.4:c.1117-189_1117-162del	ENSP00000479325.1:n.1117-189_1117-162del
NM_001127231.2:c.1861-189_1861-162del	NP_001120703.1:n.1861-189_1861-162del
NM_015570.3:c.1933-189_1933-162del	NP_056385.1:n.1933-189_1933-162del
XM_005250257.1:c.580-189_580-162del	XP_005250314.1:n.580-189_580-162del
XM_011516010.1:c.1954-189_1954-162del	XP_011514312.1:n.1954-189_1954-162del
XM_011516011.1:c.1951-189_1951-162del	XP_011514313.1:n.1951-189_1951-162del
XM_011516012.1:c.1888-189_1888-162del	XP_011514314.1:n.1888-189_1888-162del
XM_011516013.1:c.1882-189_1882-162del	XP_011514315.1:n.1882-189_1882-162del
XM_011516014.1:c.1852-189_1852-162del	XP_011514316.1:n.1852-189_1852-162del
XM_011516015.1:c.1690-189_1690-162del	XP_011514317.1:n.1690-189_1690-162del
XM_011516016.1:c.1663-189_1663-162del	XP_011514318.1:n.1663-189_1663-162del
XM_011516017.1:c.1480-189_1480-162del	XP_011514319.1:n.1480-189_1480-162del
XM_011516018.1:c.1453-189_1453-162del	XP_011514320.1:n.1453-189_1453-162del
XM_005250257.2:c.580-189_580-162del	XP_005250314.1:n.580-189_580-162del
XM_011516010.2:c.1954-189_1954-162del	XP_011514312.1:n.1954-189_1954-162del
XM_011516011.2:c.1951-189_1951-162del	XP_011514313.1:n.1951-189_1951-162del
XM_011516012.2:c.1888-189_1888-162del	XP_011514314.1:n.1888-189_1888-162del
XM_011516013.2:c.1882-189_1882-162del	XP_011514315.1:n.1882-189_1882-162del
XM_011516014.2:c.1852-189_1852-162del	XP_011514316.1:n.1852-189_1852-162del
XM_011516017.2:c.1480-189_1480-162del	XP_011514319.1:n.1480-189_1480-162del
XM_011516018.2:c.1453-189_1453-162del	XP_011514320.1:n.1453-189_1453-162del
XM_017011951.2:c.1954-189_1954-162del	XP_016867440.1:n.1954-189_1954-162del
NM_001127231.3:c.1861-189_1861-162del	NP_001120703.1:n.1861-189_1861-162del
NM_015570.4:c.1933-189_1933-162del MANE Select	NP_056385.1:n.1933-189_1933-162del