Canonical Allele Identifier: CA1586766793
Gene: ANKHD1 HGNC NCBI
ANKHD1-EIF4EBP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140482945G= , CM000667.2:g.140482945G= GRCh38
NC_000005.9:g.139862530G= , CM000667.1:g.139862530G= GRCh37
NC_000005.8:g.139842714G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360839.7:c.1870+278G= (ANKHD1) MANE Select ENSP00000354085.2:n.1870+278G=
ENST00000246149.10:c.354+278G= (ANKHD1)
ENST00000297183.10:c.-2982+278G= (ANKHD1) ENSP00000297183.7:n.-2982+278G=
ENST00000360839.6:c.1870+278G= (ANKHD1) ENSP00000354085.2:n.1870+278G=
ENST00000412116.5:c.88+278G= (ANKHD1) ENSP00000405602.1:n.88+278G=
ENST00000421134.5:c.1927+278G= (ANKHD1) ENSP00000394489.1:n.1927+278G=
ENST00000532219.5:c.1870+278G= (ANKHD1-EIF4EBP3) ENSP00000432016.1:n.1870+278G=
NM_017747.2:c.1870+278G= (ANKHD1) NP_060217.1:n.1870+278G=
NM_020690.5:c.1870+278G= (ANKHD1-EIF4EBP3) NP_065741.3:n.1870+278G=
NM_017747.3:c.1870+278G= (ANKHD1) MANE Select NP_060217.1:n.1870+278G=
NM_020690.6:c.1870+278G= (ANKHD1-EIF4EBP3) NP_065741.3:n.1870+278G=