Canonical Allele Identifier: CA2536398616

Gene: CTNND2

Linked Data

• gnomAD v4: 5-11385088-GCGCGGCGGCGGCGGCGGCGGGCGGCGCGTCGGGCAGGTGGAAGGCGCTGCCCAGGCTGGGCGCGAACGGCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.11385109_11385181del , CM000667.2:g.11385109_11385181del	GRCh38
NC_000005.9:g.11385221_11385293del , CM000667.1:g.11385221_11385293del	GRCh37
NC_000005.8:g.11438221_11438293del	NCBI36
NG_023544.1:g.523838_523910del
NG_023544.2:g.523838_523910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706271.1:c.167-20271_167-20199del	ENSP00000516315.1:n.167-20271_167-20199del
ENST00000304623.13:c.681_753del MANE Select	ENSP00000307134.8:p.Glu228SerfsTer?
ENST00000304623.12:c.681_753del	ENSP00000307134.8:p.Glu228SerfsTer?
ENST00000502551.5:c.398-20271_398-20199del	ENSP00000422389.1:n.398-20271_398-20199del
ENST00000503622.5:c.167-20271_167-20199del	ENSP00000426887.1:n.167-20271_167-20199del
ENST00000504354.5:n.217-20271_217-20199del
ENST00000504499.5:c.612+11870_612+11942del	ENSP00000421000.1:n.612+11870_612+11942del
ENST00000511278.5:n.542-20271_542-20199del
ENST00000511377.5:c.408_480del	ENSP00000426510.1:p.Glu137SerfsTer?
ENST00000513588.5:c.440-20271_440-20199del	ENSP00000421093.1:n.440-20271_440-20199del
ENST00000513598.5:c.408_480del	ENSP00000426625.1:p.Glu137SerfsTer?
ENST00000514132.1:n.330_402del
NM_001288715.1:c.408_480del	NP_001275644.1:p.Glu137SerfsTer?
NM_001288716.1:c.167-20271_167-20199del	NP_001275645.1:n.167-20271_167-20199del
NM_001288717.1:c.-123+11870_-123+11942del	NP_001275646.1:n.-123+11870_-123+11942del
NM_001332.3:c.681_753del	NP_001323.1:p.Glu228SerfsTer?
NR_109988.1:n.630-20271_630-20199del
XM_005248251.2:c.681_753del	XP_005248308.1:p.Glu228SerfsTer?
XM_005248252.1:c.639_711del	XP_005248309.1:p.Glu214SerfsTer?
XM_005248253.1:c.408_480del	XP_005248310.1:p.Glu137SerfsTer?
XM_011513967.1:c.408_480del	XP_011512269.1:p.Glu137SerfsTer?
NM_001364128.1:c.167-20271_167-20199del	NP_001351057.1:n.167-20271_167-20199del
XM_005248251.3:c.681_753del	XP_005248308.1:p.Glu228SerfsTer?
XM_005248252.2:c.639_711del	XP_005248309.1:p.Glu214SerfsTer?
XM_011513967.2:c.408_480del	XP_011512269.1:p.Glu137SerfsTer?
XM_017009072.1:c.440-20271_440-20199del	XP_016864561.1:n.440-20271_440-20199del
XM_017009073.1:c.398-20271_398-20199del	XP_016864562.1:n.398-20271_398-20199del
XM_017009074.1:c.440-20271_440-20199del	XP_016864563.1:n.440-20271_440-20199del
XM_017009075.2:c.167-20271_167-20199del	XP_016864564.1:n.167-20271_167-20199del
NM_001332.4:c.681_753del MANE Select	NP_001323.1:p.Glu228SerfsTer?
NM_001288717.2:c.-123+11870_-123+11942del	NP_001275646.1:n.-123+11870_-123+11942del
NR_109988.2:n.1033-20271_1033-20199del
NM_001364128.2:c.167-20271_167-20199del	NP_001351057.1:n.167-20271_167-20199del