Canonical Allele Identifier: CA1586766836

Gene: ANKHD1 ANKHD1-EIF4EBP3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140482998_140483000delinsCAG , CM000667.2:g.140482998_140483000delinsCAG	GRCh38
NC_000005.9:g.139862583_139862585delinsCAG , CM000667.1:g.139862583_139862585delinsCAG	GRCh37
NC_000005.8:g.139842767_139842769delinsCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360839.7:c.1870+331_1870+333delinsCAG (ANKHD1) MANE Select	ENSP00000354085.2:n.1870+331_1870+333delinsCAG
ENST00000246149.10:c.354+331_354+333delinsCAG (ANKHD1)
ENST00000297183.10:c.-2982+331_-2982+333delinsCAG (ANKHD1)	ENSP00000297183.7:n.-2982+331_-2982+333delinsCAG
ENST00000360839.6:c.1870+331_1870+333delinsCAG (ANKHD1)	ENSP00000354085.2:n.1870+331_1870+333delinsCAG
ENST00000412116.5:c.88+331_88+333delinsCAG (ANKHD1)	ENSP00000405602.1:n.88+331_88+333delinsCAG
ENST00000421134.5:c.1927+331_1927+333delinsCAG (ANKHD1)	ENSP00000394489.1:n.1927+331_1927+333delinsCAG
ENST00000532219.5:c.1870+331_1870+333delinsCAG (ANKHD1-EIF4EBP3)	ENSP00000432016.1:n.1870+331_1870+333delinsCAG
NM_017747.2:c.1870+331_1870+333delinsCAG (ANKHD1)	NP_060217.1:n.1870+331_1870+333delinsCAG
NM_020690.5:c.1870+331_1870+333delinsCAG (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+331_1870+333delinsCAG
NM_017747.3:c.1870+331_1870+333delinsCAG (ANKHD1) MANE Select	NP_060217.1:n.1870+331_1870+333delinsCAG
NM_020690.6:c.1870+331_1870+333delinsCAG (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+331_1870+333delinsCAG