Canonical Allele Identifier: CA2673260059

Gene: CTNND2

Linked Data

• gnomAD v4: 5-11385051-CGCGGCGGCGCGGGCAGCGTGGAGCTGGAGTAGTAGAGCGCGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.11385061_11385104del , CM000667.2:g.11385061_11385104del	GRCh38
NC_000005.9:g.11385173_11385216del , CM000667.1:g.11385173_11385216del	GRCh37
NC_000005.8:g.11438173_11438216del	NCBI36
NG_023544.1:g.523904_523947del
NG_023544.2:g.523904_523947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706271.1:c.167-20205_167-20162del	ENSP00000516315.1:n.167-20205_167-20162del
ENST00000304623.13:c.747_790del MANE Select	ENSP00000307134.8:p.Ala250ArgfsTer?
ENST00000304623.12:c.747_790del	ENSP00000307134.8:p.Ala250ArgfsTer?
ENST00000502551.5:c.398-20205_398-20162del	ENSP00000422389.1:n.398-20205_398-20162del
ENST00000503622.5:c.167-20205_167-20162del	ENSP00000426887.1:n.167-20205_167-20162del
ENST00000504354.5:n.217-20205_217-20162del
ENST00000504499.5:c.612+11936_612+11979del	ENSP00000421000.1:n.612+11936_612+11979del
ENST00000511278.5:n.542-20205_542-20162del
ENST00000511377.5:c.474_517del	ENSP00000426510.1:p.Ala159ArgfsTer?
ENST00000513588.5:c.440-20205_440-20162del	ENSP00000421093.1:n.440-20205_440-20162del
ENST00000513598.5:c.474_517del	ENSP00000426625.1:p.Ala159ArgfsTer?
ENST00000514132.1:n.396_439del
NM_001288715.1:c.474_517del	NP_001275644.1:p.Ala159ArgfsTer?
NM_001288716.1:c.167-20205_167-20162del	NP_001275645.1:n.167-20205_167-20162del
NM_001288717.1:c.-123+11936_-123+11979del	NP_001275646.1:n.-123+11936_-123+11979del
NM_001332.3:c.747_790del	NP_001323.1:p.Ala250ArgfsTer?
NR_109988.1:n.630-20205_630-20162del
XM_005248251.2:c.747_790del	XP_005248308.1:p.Ala250ArgfsTer?
XM_005248252.1:c.705_748del	XP_005248309.1:p.Ala236ArgfsTer?
XM_005248253.1:c.474_517del	XP_005248310.1:p.Ala159ArgfsTer?
XM_011513967.1:c.474_517del	XP_011512269.1:p.Ala159ArgfsTer?
NM_001364128.1:c.167-20205_167-20162del	NP_001351057.1:n.167-20205_167-20162del
XM_005248251.3:c.747_790del	XP_005248308.1:p.Ala250ArgfsTer?
XM_005248252.2:c.705_748del	XP_005248309.1:p.Ala236ArgfsTer?
XM_011513967.2:c.474_517del	XP_011512269.1:p.Ala159ArgfsTer?
XM_017009072.1:c.440-20205_440-20162del	XP_016864561.1:n.440-20205_440-20162del
XM_017009073.1:c.398-20205_398-20162del	XP_016864562.1:n.398-20205_398-20162del
XM_017009074.1:c.440-20205_440-20162del	XP_016864563.1:n.440-20205_440-20162del
XM_017009075.2:c.167-20205_167-20162del	XP_016864564.1:n.167-20205_167-20162del
NM_001332.4:c.747_790del MANE Select	NP_001323.1:p.Ala250ArgfsTer?
NM_001288717.2:c.-123+11936_-123+11979del	NP_001275646.1:n.-123+11936_-123+11979del
NR_109988.2:n.1033-20205_1033-20162del
NM_001364128.2:c.167-20205_167-20162del	NP_001351057.1:n.167-20205_167-20162del